Variant report

Variant	esv3437341
Chromosome Location	chr13:111364976-111367524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1167)
CpG islands
(count:1221)
Chromatin interactive
region (count:174)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1167 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:111365265-111365733	K562	blood:	n/a	n/a
2	ARID3A	chr13:111365178-111365875	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:111367400-111368133	K562	blood:	n/a	n/a
4	ARID3A	chr13:111367475-111368374	HepG2	liver:	n/a	n/a
5	ATF2	chr13:111365317-111365906	GM12878	blood:	n/a	n/a
6	ATF2	chr13:111367411-111368120	GM12878	blood:	n/a	n/a
7	ATF2	chr13:111365366-111365835	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr13:111367347-111367929	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr13:111365535-111365825	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr13:111367353-111368419	GM12878	blood:	n/a	n/a
11	ATF2	chr13:111364993-111366053	GM12878	blood:	n/a	n/a
12	ATF2	chr13:111367468-111367950	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr13:111365211-111365726	A549	lung:	n/a	chr13:111365254-111365268
14	ATF3	chr13:111367453-111367746	A549	lung:	n/a	n/a
15	BACH1	chr13:111365115-111366099	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr13:111367349-111368771	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr13:111365285-111365753	A549	lung:	n/a	chr13:111365395-111365404
18	BCL3	chr13:111367435-111367889	A549	lung:	n/a	n/a
19	BCL3	chr13:111367386-111367920	A549	lung:	n/a	n/a
20	BCL3	chr13:111367483-111367834	GM12878	blood:	n/a	n/a
21	BCLAF1	chr13:111364263-111364992	GM12878	blood:	n/a	chr13:111364759-111364772 chr13:111364765-111364778 chr13:111364762-111364775 chr13:111364761-111364774 chr13:111364774-111364783
22	BCLAF1	chr13:111365461-111365904	GM12878	blood:	n/a	n/a
23	BCLAF1	chr13:111367075-111367915	GM12878	blood:	n/a	chr13:111367185-111367198
24	BHLHE40	chr13:111364416-111365824	K562	blood:	n/a	chr13:111364758-111364774 chr13:111364759-111364775 chr13:111365270-111365286 chr13:111364753-111364769
25	BHLHE40	chr13:111364290-111366625	GM12878	blood:	n/a	chr13:111366151-111366167 chr13:111366370-111366386 chr13:111364758-111364774 chr13:111364759-111364775 chr13:111365270-111365286 chr13:111365910-111365926 chr13:111364753-111364769 chr13:111366148-111366164 chr13:111366149-111366165
26	BHLHE40	chr13:111367378-111368578	K562	blood:	n/a	chr13:111368522-111368538
27	BHLHE40	chr13:111367301-111368648	GM12878	blood:	n/a	chr13:111368522-111368538
28	BHLHE40	chr13:111365193-111365578	A549	lung:	n/a	chr13:111365270-111365286
29	BHLHE40	chr13:111364580-111365846	HepG2	liver:	n/a	chr13:111364758-111364774 chr13:111364759-111364775 chr13:111365270-111365286 chr13:111364753-111364769
30	BRCA1	chr13:111365175-111365307	GM12878	blood:	n/a	n/a
31	BRCA1	chr13:111367358-111368420	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr13:111365615-111365892	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr13:111365509-111365830	GM12878	blood:	n/a	n/a
34	BRCA1	chr13:111365180-111365788	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr13:111367480-111367862	HepG2	liver:	n/a	n/a
36	BRCA1	chr13:111365022-111365841	HepG2	liver:	n/a	n/a
37	CBX3	chr13:111365271-111365952	K562	blood:	n/a	n/a
38	CCNT2	chr13:111364286-111368686	K562	blood:	n/a	chr13:111364528-111364537 chr13:111366434-111366443 chr13:111366916-111366925
39	CEBPB	chr13:111365128-111366202	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr13:111366458-111366676	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr13:111365984-111366184	HepG2	liver:	n/a	n/a
42	CEBPB	chr13:111365194-111365706	HepG2	liver:	n/a	n/a
43	CEBPB	chr13:111366012-111366048	K562	blood:	n/a	n/a
44	CEBPD	chr13:111367436-111368025	K562	blood:	n/a	n/a
45	CEBPD	chr13:111367306-111367982	HepG2	liver:	n/a	n/a
46	CEBPD	chr13:111364393-111364987	HepG2	liver:	n/a	n/a
47	CEBPD	chr13:111367490-111367970	HepG2	liver:	n/a	n/a
48	CEBPD	chr13:111365441-111365885	K562	blood:	n/a	n/a
49	CEBPD	chr13:111365499-111365718	HepG2	liver:	n/a	n/a
50	CEBPD	chr13:111365282-111366296	HepG2	liver:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111367259-111367309	HCPEpiC	choroid plexus:	n/a
2	chr13:111367259-111367309	HCPEpiC	choroid plexus:	n/a
3	chr13:111366057-111366107	HRCEpiC	kidney:	n/a
4	chr13:111366057-111366107	SK-N-SH	brain:	n/a
5	chr13:111367256-111367306	PANC-1	pancreas:	n/a
6	chr13:111366822-111366872	HRCEpiC	kidney:	n/a
7	chr13:111365604-111365654	NHBE	bronchial:	n/a
8	chr13:111365552-111365602	HPAEpiC	pulmonary alveolar:	n/a
9	chr13:111365604-111365654	Jurkat	blood:	n/a
10	chr13:111367185-111367235	HAEpiC	amniotic membrane:	n/a
11	chr13:111366092-111366142	PANC-1	pancreas:	n/a
12	chr13:111367185-111367235	Hepatocyte	liver:	n/a
13	chr13:111367256-111367306	PrEC	prostate:	n/a
14	chr13:111365483-111365533	HRE	kidney:	n/a
15	chr13:111366092-111366142	RPTEC	kidney:	n/a
16	chr13:111367171-111367221	NH-A	brain:	n/a
17	chr13:111366565-111366615	BE2_C	brain:	n/a
18	chr13:111365570-111365620	AG10803	skin:	n/a
19	chr13:111365552-111365602	Caco-2	colon:	n/a
20	chr13:111366565-111366615	GM12891	blood:	n/a
21	chr13:111365604-111365654	A549	lung:	n/a
22	chr13:111367253-111367303	NB4	blood:	n/a
23	chr13:111366822-111366872	HAEpiC	amniotic membrane:	n/a
24	chr13:111366822-111366872	HCPEpiC	choroid plexus:	n/a
25	chr13:111367171-111367221	HEK293	kidney:	embryo
26	chr13:111365705-111365755	GM12891	blood:	n/a
27	chr13:111366070-111366120	RPTEC	kidney:	n/a
28	chr13:111365483-111365533	NB4	blood:	n/a
29	chr13:111365483-111365533	SKMC	muscle:	n/a
30	chr13:111367253-111367303	H1-hESC	embryonic stem cell:	embryo
31	chr13:111366057-111366107	T-47D	breast:	n/a
32	chr13:111366565-111366615	PANC-1	pancreas:	n/a
33	chr13:111366092-111366142	U87	brain:	n/a
34	chr13:111365026-111365076	Hepatocyte	liver:	n/a
35	chr13:111365552-111365602	AG04449	skin:	fetal
36	chr13:111367253-111367303	K562	blood:	n/a
37	chr13:111367185-111367235	PrEC	prostate:	n/a
38	chr13:111366092-111366142	HRPEpiC	eye:	n/a
39	chr13:111365026-111365076	Jurkat	blood:	n/a
40	chr13:111365570-111365620	NHDF-neo	bronchial:	n/a
41	chr13:111365705-111365755	H1-hESC	embryonic stem cell:	embryo
42	chr13:111365026-111365076	Hela-S3	cervix:	n/a
43	chr13:111367171-111367221	K562	blood:	n/a
44	chr13:111365311-111365361	BJ	skin:	n/a
45	chr13:111365705-111365755	SK-N-SH	brain:	n/a
46	chr13:111364929-111364979	AG04450	lung:	fetal
47	chr13:111366565-111366615	Hela-S3	cervix:	n/a
48	chr13:111366057-111366107	Hela-S3	cervix:	n/a
49	chr13:111366822-111366872	Hela-S3	cervix:	n/a
50	chr13:111365483-111365533	HCM	heart:	n/a

(count:174 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr13:111367217..111368069-chr3:122102851..122103491,2	Hela-S3	cervix:
2	chr13:111366242..111369169-chr9:123638760..123640480,2	K562	blood:
3	chr13:111265756..111270693-chr13:111363417..111370660,10	K562	blood:
4	chr13:111367330..111367952-chr8:128748157..128749145,2	Hela-S3	cervix:
5	chr13:111064820..111066912-chr13:111364451..111367008,2	K562	blood:
6	chr13:111367522..111368091-chr14:75745146..75745654,2	Hela-S3	cervix:
7	chr13:111315803..111317309-chr13:111365630..111368023,2	MCF-7	breast:
8	chr12:46776802..46777493-chr13:111367167..111367727,2	Hela-S3	cervix:
9	chr1:145382405..145383074-chr13:111365507..111366014,2	Hela-S3	cervix:
10	chr13:111367287..111367883-chr18:20513288..20513863,2	NB4	blood:
11	chr13:111365609..111366210-chr3:186501049..186501900,2	Hela-S3	cervix:
12	chr13:111367322..111368129-chr19:58789953..58790694,2	Hela-S3	cervix:
13	chr13:111335027..111337821-chr13:111366043..111367943,3	K562	blood:
14	chr1:36554087..36554987-chr13:111367153..111367878,2	Hela-S3	cervix:
15	chr13:111365018..111365816-chr2:88354926..88355799,2	Hela-S3	cervix:
16	chr12:56509974..56510977-chr13:111365302..111366091,3	Hela-S3	cervix:
17	chr13:110436751..110439259-chr13:111364404..111367804,3	K562	blood:
18	chr11:71823607..71824181-chr13:111367373..111368069,2	NB4	blood:
19	chr13:111365361..111366074-chr9:34048436..34049269,4	NB4	blood:
20	chr13:50655578..50656419-chr13:111367193..111368117,2	Hela-S3	cervix:
21	chr13:111365255..111365862-chr2:85132427..85133254,2	Hela-S3	cervix:
22	chr13:111328800..111332502-chr13:111363272..111367932,6	K562	blood:
23	chr11:76494145..76494944-chr13:111367285..111367785,2	Hela-S3	cervix:
24	chr1:231376179..231376987-chr13:111364982..111365721,2	Hela-S3	cervix:
25	chr13:111367374..111368062-chr6:116421730..116422275,2	Hela-S3	cervix:
26	chr13:111366707..111367602-chr15:50715895..50716764,2	NB4	blood:
27	chr13:111303184..111305252-chr13:111363759..111366267,2	MCF-7	breast:
28	chr13:111362370..111368494-chr13:111564438..111569891,17	K562	blood:
29	chr13:111365194..111365970-chr6:33359428..33360074,2	Hela-S3	cervix:
30	chr12:56435513..56436185-chr13:111367452..111368169,2	Hela-S3	cervix:
31	chr13:111266737..111268751-chr13:111366724..111368921,2	K562	blood:
32	chr13:111362764..111370771-chr13:111560775..111570046,21	K562	blood:
33	chr13:111365513..111366041-chr2:32390122..32390862,2	Hela-S3	cervix:
34	chr13:111211605..111215710-chr13:111363534..111368936,10	MCF-7	breast:
35	chr13:111367505..111368017-chr18:55711885..55712578,2	HCT-116	colon:
36	chr13:111367147..111367729-chr5:172755753..172756564,2	Hela-S3	cervix:
37	chr11:62554791..62555435-chr13:111365482..111366393,2	Hela-S3	cervix:
38	chr13:111367204..111367817-chr17:49230453..49230974,2	Hela-S3	cervix:
39	chr12:108956020..108956929-chr13:111367128..111368092,2	HCT-116	colon:
40	chr13:111367281..111367960-chr22:31741994..31742502,2	Hela-S3	cervix:
41	chr13:111365754..111366440-chr20:30101979..30102790,2	Hela-S3	cervix:
42	chr13:111366177..111368396-chr13:111465118..111467461,3	K562	blood:
43	chr13:111364121..111365327-chr16:30076651..30077521,3	Hela-S3	cervix:
44	chr13:111366012..111366734-chr15:43663121..43663677,2	Hela-S3	cervix:
45	chr13:111365475..111366292-chr19:41255848..41256558,2	Hela-S3	cervix:
46	chr13:111366992..111367725-chr5:55290748..55291382,2	NB4	blood:
47	chr13:111365767..111368359-chr13:111545152..111547913,2	K562	blood:
48	chr13:111267596..111269197-chr13:111364131..111366094,2	K562	blood:
49	chr13:111365013..111366639-chr14:50357732..50360500,2	MCF-7	breast:
50	chr10:35930176..35931115-chr13:111367306..111367980,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CARS2	TF binding region
ING1	TF binding region
CARS2	CpG island
ING1	CpG island
ENSG00000071082	chromatin interactions
ENSG00000004534	chromatin interactions
ENSG00000257261	chromatin interactions
ENSG00000165527	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000227467	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000239672	chromatin interactions
ENSG00000143633	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000163029	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000111665	chromatin interactions
ENSG00000152944	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000139218	chromatin interactions
ENSG00000119403	chromatin interactions
ENSG00000116863	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000268516	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000100578	chromatin interactions
ENSG00000238629	chromatin interactions
ENSG00000225239	chromatin interactions
ENSG00000162385	chromatin interactions
ENSG00000004975	chromatin interactions
ENSG00000139832	chromatin interactions
ENSG00000137806	chromatin interactions
ENSG00000124198	chromatin interactions
ENSG00000145779	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000265943	chromatin interactions
ENSG00000147168	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000141646	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000075651	chromatin interactions
ENSG00000088325	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000227237	chromatin interactions
ENSG00000092201	chromatin interactions
ENSG00000122359	chromatin interactions
ENSG00000272716	chromatin interactions
ENSG00000174839	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000171163	chromatin interactions
ENSG00000108256	chromatin interactions
ENSG00000135316	chromatin interactions
ENSG00000141127	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000182704	chromatin interactions
ENSG00000185950	chromatin interactions
ENSG00000122644	chromatin interactions
ENSG00000011052	chromatin interactions
ENSG00000121022	chromatin interactions
ENSG00000179988	chromatin interactions
ENSG00000264817	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000042429	chromatin interactions
ENSG00000123136	chromatin interactions
ENSG00000267216	chromatin interactions
ENSG00000224870	chromatin interactions
ENSG00000048028	chromatin interactions
ENSG00000100575	chromatin interactions
ENSG00000136003	chromatin interactions
ENSG00000049759	chromatin interactions
ENSG00000214860	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000057663	chromatin interactions
ENSG00000172115	chromatin interactions
ENSG00000203667	chromatin interactions
ENSG00000238198	chromatin interactions
ENSG00000041880	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000259831	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000116906	chromatin interactions
ENSG00000103932	chromatin interactions
ENSG00000145730	chromatin interactions
ENSG00000264780	chromatin interactions
ENSG00000113739	chromatin interactions
ENSG00000178425	chromatin interactions
ENSG00000147687	chromatin interactions
ENSG00000130489	chromatin interactions
ENSG00000246067	chromatin interactions
ENSG00000138592	chromatin interactions
ENSG00000151092	chromatin interactions
ENSG00000188895	chromatin interactions
ENSG00000134871	chromatin interactions
ENSG00000105254	chromatin interactions
ENSG00000260088	chromatin interactions
ENSG00000149476	chromatin interactions
ENSG00000270066	chromatin interactions
ENSG00000134352	chromatin interactions
ENSG00000137822	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000077312	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000101773	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000104218	chromatin interactions
ENSG00000232814	chromatin interactions
ENSG00000185475	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000165501	chromatin interactions
ENSG00000237649	chromatin interactions
ENSG00000233347	chromatin interactions
ENSG00000088448	chromatin interactions
ENSG00000249859	chromatin interactions
ENSG00000251131	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000231170	chromatin interactions
ENSG00000173230	chromatin interactions
ENSG00000242337	chromatin interactions
ENSG00000263412	chromatin interactions
ENSG00000243678	chromatin interactions
ENSG00000083842	chromatin interactions
ENSG00000188493	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000146350	chromatin interactions
ENSG00000115317	chromatin interactions
ENSG00000004799	chromatin interactions
ENSG00000006625	chromatin interactions
ENSG00000234028	chromatin interactions
ENSG00000012963	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000257449	chromatin interactions
ENSG00000253459	chromatin interactions
ENSG00000114023	chromatin interactions
ENSG00000137502	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000051108	chromatin interactions
ENSG00000177283	chromatin interactions
ENSG00000100105	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000230583	chromatin interactions
ENSG00000273439	chromatin interactions
ENSG00000090863	chromatin interactions
ENSG00000092853	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000255831	chromatin interactions
ENSG00000165355	chromatin interactions
ENSG00000101294	chromatin interactions
ENSG00000176124	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000077147	chromatin interactions
ENSG00000118197	chromatin interactions
ENSG00000178295	chromatin interactions
ENSG00000114019	chromatin interactions
ENSG00000159202	chromatin interactions
ENSG00000115307	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000223947	chromatin interactions
ENSG00000143819	chromatin interactions
ENSG00000213995	chromatin interactions
ENSG00000140265	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000172086	chromatin interactions
ENSG00000241933	chromatin interactions
ENSG00000105258	chromatin interactions
ENSG00000227908	chromatin interactions
ENSG00000231607	chromatin interactions
ENSG00000137073	chromatin interactions
ENSG00000151093	chromatin interactions
ENSG00000123933	chromatin interactions
ENSG00000139318	chromatin interactions
ENSG00000167986	chromatin interactions
ENSG00000255874	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000073921	chromatin interactions
ENSG00000213741	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549080645	chr13:111365004-111365005	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
2	rs567505037	chr13:111365007-111365008	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
3	rs534777684	chr13:111365037-111365038	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
4	rs187307683	chr13:111365088-111365089	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
5	rs12875067	chr13:111365104-111365105	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs189323995	chr13:111365122-111365123	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
7	rs557366127	chr13:111365125-111365126	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
8	rs180848147	chr13:111365145-111365146	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
9	rs542739889	chr13:111365157-111365158	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
10	rs72663414	chr13:111365171-111365172	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
11	rs368247586	chr13:111365186-111365187	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
12	rs144466308	chr13:111365195-111365196	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
13	rs375620358	chr13:111365219-111365220	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
14	rs371787190	chr13:111365239-111365240	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
15	rs369112100	chr13:111365240-111365241	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
16	rs565440904	chr13:111365242-111365243	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
17	rs374662276	chr13:111365245-111365246	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
18	rs577423815	chr13:111365250-111365251	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
19	rs185251069	chr13:111365259-111365260	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
20	rs563326900	chr13:111365271-111365272	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
21	rs530505061	chr13:111365286-111365287	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
22	rs115915862	chr13:111365310-111365311	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
23	rs190068917	chr13:111365322-111365323	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
24	rs372877159	chr13:111365328-111365329	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
25	rs528299088	chr13:111365331-111365332	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
26	rs375842294	chr13:111365349-111365350	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
27	rs202081363	chr13:111365350-111365351	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
28	rs372639568	chr13:111365354-111365355	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
29	rs375717214	chr13:111365361-111365362	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
30	rs538970846	chr13:111365384-111365385	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
31	rs550578136	chr13:111365416-111365417	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
32	rs569267727	chr13:111365419-111365420	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
33	rs536210039	chr13:111365422-111365423	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
34	rs112587620	chr13:111365434-111365435	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
35	rs554664233	chr13:111365437-111365438	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
36	rs572952972	chr13:111365466-111365467	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
37	rs572712703	chr13:111365467-111365468	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
38	rs368293581	chr13:111365468-111365469	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	60 gene(s)	Overlapped CNVs	n/a
39	rs147974514	chr13:111365516-111365517	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	70 gene(s)	Overlapped CNVs	n/a
40	rs182650066	chr13:111365528-111365529	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	72 gene(s)	Overlapped CNVs	n/a
41	rs543529135	chr13:111365529-111365530	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	72 gene(s)	Overlapped CNVs	n/a
42	rs577347252	chr13:111365532-111365533	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	72 gene(s)	Overlapped CNVs	n/a
43	rs367819821	chr13:111365546-111365547	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	74 gene(s)	Overlapped CNVs	n/a
44	rs141699050	chr13:111365547-111365548	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	74 gene(s)	Overlapped CNVs	n/a
45	rs371661157	chr13:111365556-111365557	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
46	rs186870680	chr13:111365584-111365585	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
47	rs1441042	chr13:111365589-111365590	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	76 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs146231445	chr13:111365593-111365594	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
49	rs560975379	chr13:111365608-111365609	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
50	rs528236975	chr13:111365613-111365614	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	81 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111363600-111369000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr13:111363600-111369000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr13:111363600-111370000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr13:111363600-111370000	Active TSS	K562	blood
5	chr13:111363600-111370400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr13:111363600-111370800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:111363800-111367000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:111363800-111368600	Active TSS	Fetal Brain Female	brain
9	chr13:111363800-111368800	Bivalent/Poised TSS	HepG2	liver
10	chr13:111363800-111369000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:111363800-111369000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:111363800-111369400	Active TSS	Right Ventricle	heart
13	chr13:111363800-111369600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:111363800-111369800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:111363800-111369800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:111363800-111369800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr13:111363800-111369800	Active TSS	Psoas Muscle	Psoas
18	chr13:111363800-111370200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr13:111363800-111370400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr13:111363800-111370600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:111363800-111370800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:111364000-111365000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:111364000-111365400	Active TSS	Right Atrium	heart
24	chr13:111364000-111365800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr13:111364000-111366600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:111364000-111366600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:111364000-111367600	Active TSS	Fetal Heart	heart
28	chr13:111364000-111369000	Active TSS	Esophagus	oesophagus
29	chr13:111364000-111369200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:111364000-111369200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:111364000-111369200	Active TSS	Fetal Muscle Trunk	muscle
32	chr13:111364000-111369200	Active TSS	Left Ventricle	heart
33	chr13:111364000-111369600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr13:111364000-111370200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr13:111364000-111370200	Active TSS	Colonic Mucosa	Colon
36	chr13:111364000-111370200	Active TSS	Fetal Intestine Large	intestine
37	chr13:111364000-111370200	Active TSS	Fetal Intestine Small	intestine
38	chr13:111364000-111370400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr13:111364200-111365200	Active TSS	Fetal Brain Male	brain
40	chr13:111364200-111365800	Active TSS	Stomach Mucosa	stomach
41	chr13:111364200-111366400	Active TSS	Brain Germinal Matrix	brain
42	chr13:111364200-111368600	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr13:111364200-111368600	Active TSS	Liver	Liver
44	chr13:111364200-111368600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr13:111364200-111368600	Active TSS	Thymus	Thymus
46	chr13:111364200-111368800	Active TSS	Brain Anterior Caudate	brain
47	chr13:111364200-111368800	Active TSS	Fetal Kidney	kidney
48	chr13:111364200-111368800	Active TSS	Placenta Amnion	Placenta Amnion
49	chr13:111364200-111368800	Active TSS	Small Intestine	intestine
50	chr13:111364200-111369000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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