Variant report

Variant	nsv901013
Chromosome Location	chr13:111291192-111340342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1523)
CpG islands
(count:3420)
Chromatin interactive
region (count:65)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:111335600-111336012	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:111336891-111337374	HepG2	liver:	n/a	n/a
3	ATF2	chr13:111310549-111311028	GM12878	blood:	n/a	n/a
4	ATF2	chr13:111328388-111328778	GM12878	blood:	n/a	n/a
5	ATF2	chr13:111297171-111297695	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr13:111292717-111293400	GM12878	blood:	n/a	n/a
7	ATF2	chr13:111310393-111311021	GM12878	blood:	n/a	n/a
8	ATF2	chr13:111291711-111291958	GM12878	blood:	n/a	n/a
9	ATF2	chr13:111297005-111297508	GM12878	blood:	n/a	n/a
10	ATF2	chr13:111328300-111329671	GM12878	blood:	n/a	n/a
11	BACH1	chr13:111297197-111297370	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr13:111328517-111328988	GM12878	blood:	n/a	n/a
13	BATF	chr13:111329690-111330085	GM12878	blood:	n/a	n/a
14	BATF	chr13:111310573-111310884	GM12878	blood:	n/a	n/a
15	BATF	chr13:111310577-111310834	GM12878	blood:	n/a	n/a
16	BCL11A	chr13:111329451-111330173	GM12878	blood:	n/a	n/a
17	BCL11A	chr13:111305620-111305918	GM12878	blood:	n/a	n/a
18	BCL11A	chr13:111328428-111328936	GM12878	blood:	n/a	n/a
19	BCL3	chr13:111328387-111328879	GM12878	blood:	n/a	n/a
20	BCL3	chr13:111294690-111295365	GM12878	blood:	n/a	n/a
21	BCL3	chr13:111292574-111293622	GM12878	blood:	n/a	n/a
22	BCL3	chr13:111296950-111297667	GM12878	blood:	n/a	chr13:111297442-111297455 chr13:111297171-111297180
23	BCLAF1	chr13:111328295-111329322	GM12878	blood:	n/a	n/a
24	BCLAF1	chr13:111328372-111329520	GM12878	blood:	n/a	n/a
25	BCLAF1	chr13:111297119-111297528	GM12878	blood:	n/a	chr13:111297442-111297455 chr13:111297171-111297180
26	BCLAF1	chr13:111310470-111310931	GM12878	blood:	n/a	n/a
27	BHLHE40	chr13:111297241-111297508	GM12878	blood:	n/a	n/a
28	BHLHE40	chr13:111305676-111305930	GM12878	blood:	n/a	n/a
29	BHLHE40	chr13:111310473-111310899	GM12878	blood:	n/a	n/a
30	BHLHE40	chr13:111305214-111305424	GM12878	blood:	n/a	n/a
31	BHLHE40	chr13:111328344-111329778	GM12878	blood:	n/a	chr13:111328790-111328806 chr13:111328782-111328798
32	BHLHE40	chr13:111293527-111293717	K562	blood:	n/a	n/a
33	BRCA1	chr13:111297153-111297341	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr13:111328583-111329166	GM12878	blood:	n/a	n/a
35	CCNT2	chr13:111300553-111300752	K562	blood:	n/a	n/a
36	CEBPB	chr13:111335776-111336154	HepG2	liver:	n/a	n/a
37	CEBPB	chr13:111335784-111336094	A549	lung:	n/a	n/a
38	CEBPB	chr13:111296399-111296684	HepG2	liver:	n/a	chr13:111296543-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296542-111296553 chr13:111296543-111296552 chr13:111296541-111296554 chr13:111296541-111296554
39	CEBPB	chr13:111297872-111298004	H1-hESC	embryonic stem cell:	n/a	chr13:111297935-111297948 chr13:111297935-111297948 chr13:111297935-111297946
40	CEBPB	chr13:111296368-111296718	A549	lung:	n/a	chr13:111296543-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296542-111296553 chr13:111296543-111296552 chr13:111296541-111296554 chr13:111296541-111296554
41	CEBPB	chr13:111297242-111297484	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr13:111310783-111310860	K562	blood:	n/a	n/a
43	CEBPB	chr13:111336870-111336959	HepG2	liver:	n/a	n/a
44	CEBPB	chr13:111335778-111336129	K562	blood:	n/a	n/a
45	CEBPB	chr13:111297784-111298052	Hela-S3	cervix:	n/a	chr13:111297935-111297948 chr13:111297935-111297948 chr13:111297935-111297946
46	CEBPB	chr13:111297942-111298042	K562	blood:	n/a	n/a
47	CEBPB	chr13:111297861-111298066	HepG2	liver:	n/a	chr13:111297935-111297948 chr13:111297935-111297948 chr13:111297935-111297946
48	CEBPB	chr13:111296411-111296698	K562	blood:	n/a	chr13:111296543-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296543-111296552 chr13:111296541-111296552 chr13:111296542-111296553 chr13:111296543-111296552 chr13:111296541-111296554 chr13:111296541-111296554
49	CEBPZ	chr13:111310356-111310500	HepG2	liver:	n/a	n/a
50	CHD1	chr13:111297274-111297466	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3420 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111303789-111303839	CMK	blood:	n/a
2	chr13:111305822-111305872	HL-60	blood:	n/a
3	chr13:111295081-111295131	HL-60	blood:	n/a
4	chr13:111340159-111340209	RPTEC	kidney:	n/a
5	chr13:111303789-111303839	CMK	blood:	n/a
6	chr13:111305822-111305872	HL-60	blood:	n/a
7	chr13:111295081-111295131	HL-60	blood:	n/a
8	chr13:111340159-111340209	RPTEC	kidney:	n/a
9	chr13:111295728-111295778	AG04450	lung:	fetal
10	chr13:111294747-111294797	GM12892	blood:	n/a
11	chr13:111291316-111291366	GM06990	blood:	n/a
12	chr13:111291316-111291366	HCPEpiC	choroid plexus:	n/a
13	chr13:111294747-111294797	NHBE	bronchial:	n/a
14	chr13:111318555-111318605	NHDF-neo	bronchial:	n/a
15	chr13:111293846-111293896	HIPEpiC	eye:	n/a
16	chr13:111318555-111318605	HCT-116	colon:	n/a
17	chr13:111301774-111301824	PrEC	prostate:	n/a
18	chr13:111322081-111322131	T-47D	breast:	n/a
19	chr13:111295144-111295194	ECC-1	luminal epithelium:	n/a
20	chr13:111328783-111328833	HIPEpiC	eye:	n/a
21	chr13:111291582-111291632	PFSK-1	brain:	n/a
22	chr13:111331255-111331305	Hepatocyte	liver:	n/a
23	chr13:111318022-111318072	Hepatocyte	liver:	n/a
24	chr13:111301576-111301626	HEK293	kidney:	embryo
25	chr13:111328783-111328833	LNCaP	prostate:	n/a
26	chr13:111318555-111318605	Hela-S3	cervix:	n/a
27	chr13:111291316-111291366	IMR90	lung:	fetal
28	chr13:111331255-111331305	HUVEC	blood vessel:	n/a
29	chr13:111314603-111314653	SK-N-SH_RA	brain:	n/a
30	chr13:111330699-111330749	GM19239	blood:	n/a
31	chr13:111297400-111297450	U87	brain:	n/a
32	chr13:111305822-111305872	AG10803	skin:	n/a
33	chr13:111291685-111291735	NB4	blood:	n/a
34	chr13:111301317-111301367	HEK293	kidney:	embryo
35	chr13:111306312-111306362	AG10803	skin:	n/a
36	chr13:111336430-111336480	AoSMC	blood vessel:	n/a
37	chr13:111291316-111291366	A549	lung:	n/a
38	chr13:111314603-111314653	HCF	heart:	n/a
39	chr13:111334467-111334517	HRCEpiC	kidney:	n/a
40	chr13:111295081-111295131	HRPEpiC	eye:	n/a
41	chr13:111301379-111301429	SK-N-SH	brain:	n/a
42	chr13:111299462-111299512	HCM	heart:	n/a
43	chr13:111330434-111330484	ProgFib	skin:	n/a
44	chr13:111329221-111329271	Hela-S3	cervix:	n/a
45	chr13:111299462-111299512	ECC-1	luminal epithelium:	n/a
46	chr13:111340191-111340241	HCM	heart:	n/a
47	chr13:111294747-111294797	HEEpiC	esophagus:	n/a
48	chr13:111295728-111295778	T-47D	breast:	n/a
49	chr13:111297551-111297601	PrEC	prostate:	n/a
50	chr13:111329221-111329271	AG04450	lung:	fetal

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:111296887..111299817-chr13:111365376..111368411,4	MCF-7	breast:
2	chr13:111303282..111307425-chr13:111364172..111367673,6	MCF-7	breast:
3	chr13:111292709..111295545-chr13:111300565..111303424,2	MCF-7	breast:
4	chr13:111295716..111298451-chr13:111301231..111303223,3	MCF-7	breast:
5	chr13:111313923..111315500-chr13:111364916..111367605,2	MCF-7	breast:
6	chr13:111266678..111269187-chr13:111295319..111298212,3	MCF-7	breast:
7	chr13:111334523..111337110-chr13:111337713..111340706,3	K562	blood:
8	chr13:111299129..111300874-chr13:111356502..111358469,2	K562	blood:
9	chr13:111314783..111317177-chr13:111319064..111320921,2	K562	blood:
10	chr13:111320304..111323011-chr13:111365996..111367898,2	K562	blood:
11	chr13:111335534..111341041-chr13:111341252..111346282,8	K562	blood:
12	chr13:111332786..111335109-chr13:111356617..111359801,4	MCF-7	breast:
13	chr13:111333021..111335304-chr13:111366011..111368539,3	K562	blood:
14	chr13:111302128..111303846-chr13:111308672..111310987,2	K562	blood:
15	chr13:111331059..111333327-chr13:111365310..111368139,4	MCF-7	breast:
16	chr13:111303184..111305252-chr13:111363759..111366267,2	MCF-7	breast:
17	chr13:111332795..111333429-chr13:111365730..111366453,2	K562	blood:
18	chr13:111297109..111298768-chr13:111365572..111368457,2	K562	blood:
19	chr13:111266944..111268705-chr13:111296076..111298471,2	K562	blood:
20	chr1:71371588..71372088-chr13:111314049..111314743,2	Hela-S3	cervix:
21	chr13:111328800..111332502-chr13:111363272..111367932,6	K562	blood:
22	chr13:111299374..111301363-chr13:111356502..111358209,2	K562	blood:
23	chr13:111300252..111302823-chr17:62160230..62162389,2	MCF-7	breast:
24	chr13:111293993..111296064-chr13:111303671..111305521,2	K562	blood:
25	chr13:111288106..111291537-chr13:111365021..111367152,3	K562	blood:
26	chr13:111319875..111322001-chr13:111366343..111369154,2	MCF-7	breast:
27	chr13:111292549..111296522-chr13:111365011..111368169,4	MCF-7	breast:
28	chr13:111292910..111295041-chr13:111296553..111298081,2	MCF-7	breast:
29	chr13:111339867..111342003-chr13:111356640..111358659,2	MCF-7	breast:
30	chr13:111314783..111317177-chr13:111319064..111320921,2	K562	blood:
31	chr13:111335461..111337308-chr13:111363462..111365716,2	MCF-7	breast:
32	chr13:111300583..111303510-chr13:111304221..111307506,4	K562	blood:
33	chr13:111295887..111296636-chr19:10443828..10444619,2	NB4	blood:
34	chr13:111304729..111307376-chr13:111307813..111310341,2	K562	blood:
35	chr13:111245045..111250011-chr13:111292249..111295847,5	MCF-7	breast:
36	chr13:111330512..111332280-chr13:111367075..111369007,2	K562	blood:
37	chr13:111308870..111310970-chr13:111364817..111367512,2	MCF-7	breast:
38	chr13:111334321..111336628-chr13:111364897..111367415,3	MCF-7	breast:
39	chr13:111294769..111302902-chr13:111363368..111369699,14	K562	blood:
40	chr13:111304729..111307376-chr13:111307813..111310341,2	K562	blood:
41	chr13:111295643..111300120-chr13:111365518..111369026,8	MCF-7	breast:
42	chr13:111301542..111303222-chr13:111306066..111307646,2	MCF-7	breast:
43	chr13:111305324..111306927-chr13:111562816..111565000,2	MCF-7	breast:
44	chr13:111301542..111303222-chr13:111306066..111307646,2	MCF-7	breast:
45	chr13:111339506..111342066-chr13:111350294..111353169,2	MCF-7	breast:
46	chr13:111315803..111317309-chr13:111365630..111368023,2	MCF-7	breast:
47	chr13:111280819..111283163-chr13:111298869..111301563,3	K562	blood:
48	chr13:111336321..111339230-chr13:111365853..111367619,2	K562	blood:
49	chr13:111289947..111291840-chr13:111364201..111367983,3	MCF-7	breast:
50	chr13:111299507..111301801-chr13:111367049..111369699,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARKD-1	chr13:111291555-111292340	NONHSAT035156

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CARS2	hsa-miR-155-5p	chr13:111293778-111293799

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000255831	TF binding region
CARS2	CpG island
ENSG00000255831	CpG island
ENSG00000088448	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000196177	chromatin interactions
ENSG00000213995	chromatin interactions

Extended variants
information (count: 2376 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2376 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs330565	chr13:111291192-111291193	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532152152	chr13:111291214-111291215	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs186342112	chr13:111291217-111291218	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs11551103	chr13:111291218-111291219	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs545979582	chr13:111291235-111291236	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs530050951	chr13:111291246-111291247	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs330566	chr13:111291247-111291248	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs424943	chr13:111291256-111291257	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs527707487	chr13:111291260-111291261	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs544657208	chr13:111291261-111291262	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs151169857	chr13:111291263-111291264	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs386774758	chr13:111291264-111291265	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369019155	chr13:111291266-111291267	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs550446375	chr13:111291275-111291276	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs568566659	chr13:111291289-111291290	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs536107603	chr13:111291291-111291292	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs377661263	chr13:111291294-111291295	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs554181625	chr13:111291316-111291317	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs572766208	chr13:111291335-111291336	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs533568007	chr13:111291339-111291340	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs558213578	chr13:111291362-111291363	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs576569526	chr13:111291371-111291372	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs116094882	chr13:111291398-111291399	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs189587788	chr13:111291426-111291427	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs370938904	chr13:111291498-111291499	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs375360803	chr13:111291503-111291504	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs16940507	chr13:111291538-111291539	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs147008538	chr13:111291539-111291540	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs542080376	chr13:111291550-111291551	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs546706347	chr13:111291556-111291557	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs181431613	chr13:111291561-111291562	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs1043939	chr13:111291564-111291565	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs186063663	chr13:111291579-111291580	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs564570273	chr13:111291582-111291583	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs369818677	chr13:111291589-111291590	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs550019743	chr13:111291598-111291599	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs139063737	chr13:111291621-111291622	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs11551105	chr13:111291622-111291623	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs569216679	chr13:111291641-111291642	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs566276072	chr13:111291645-111291646	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs12430466	chr13:111291651-111291652	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558175164	chr13:111291652-111291653	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs142986514	chr13:111291657-111291658	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs537506908	chr13:111291658-111291659	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs556007016	chr13:111291733-111291734	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs574553088	chr13:111291753-111291754	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs566462623	chr13:111291757-111291758	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs541693407	chr13:111291766-111291767	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs41275130	chr13:111291770-111291771	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs112420678	chr13:111291771-111291772	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Hepatocellular carcinoma	22267523	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1837 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111270800-111296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111280800-111328600	Weak transcription	Psoas Muscle	Psoas
3	chr13:111281400-111293000	Weak transcription	Right Atrium	heart
4	chr13:111282000-111309600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:111282800-111310000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:111285800-111296800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:111286000-111297000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr13:111286000-111297000	Strong transcription	Fetal Intestine Large	intestine
9	chr13:111286000-111297000	Strong transcription	Fetal Intestine Small	intestine
10	chr13:111286000-111297200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:111286000-111297400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:111286000-111298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:111286200-111291800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:111286200-111292400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:111286200-111292600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr13:111286200-111293000	Strong transcription	Colon Smooth Muscle	Colon
17	chr13:111286200-111293000	Strong transcription	Fetal Stomach	stomach
18	chr13:111286200-111293200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:111286200-111296200	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr13:111286200-111296800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:111286200-111296800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr13:111286200-111296800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr13:111286200-111296800	Strong transcription	Gastric	stomach
24	chr13:111286200-111297000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:111286200-111297000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr13:111286200-111297000	Strong transcription	Fetal Thymus	thymus
27	chr13:111286200-111297200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr13:111286200-111297400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr13:111286200-111299600	Strong transcription	Placenta	Placenta
30	chr13:111286200-111308400	Strong transcription	Dnd41	blood
31	chr13:111286400-111292600	Strong transcription	GM12878-XiMat	blood
32	chr13:111286400-111293000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:111286400-111293000	Strong transcription	Fetal Muscle Leg	muscle
34	chr13:111286400-111293800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:111286400-111296800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr13:111286400-111296800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:111286400-111296800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:111286400-111297000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr13:111286400-111297000	Strong transcription	Primary T cells from cord blood	blood
40	chr13:111286400-111297000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:111286400-111297000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr13:111286400-111297200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr13:111286400-111297400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr13:111286400-111299800	Strong transcription	HepG2	liver
45	chr13:111286400-111300400	Strong transcription	Thymus	Thymus
46	chr13:111286400-111308200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:111286600-111291400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr13:111286600-111291600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:111286600-111291800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr13:111286600-111291800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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