Variant report

Variant	esv2751128
Chromosome Location	chr13:111040798-111132490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2379)
CpG islands
(count:3420)
Chromatin interactive
region (count:55)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2379 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:111108300-111108560	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:111108303-111108757	K562	blood:	n/a	n/a
3	ATF1	chr13:111073105-111073273	K562	blood:	n/a	n/a
4	ATF1	chr13:111124021-111124486	K562	blood:	n/a	n/a
5	ATF1	chr13:111064557-111064893	K562	blood:	n/a	n/a
6	ATF2	chr13:111108215-111108853	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr13:111096081-111096568	GM12878	blood:	n/a	n/a
8	ATF2	chr13:111108170-111108771	GM12878	blood:	n/a	n/a
9	ATF2	chr13:111099294-111099749	GM12878	blood:	n/a	n/a
10	ATF2	chr13:111074033-111074424	GM12878	blood:	n/a	n/a
11	ATF2	chr13:111064442-111064956	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr13:111064448-111065005	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr13:111127955-111128352	GM12878	blood:	n/a	n/a
14	ATF2	chr13:111127530-111128391	GM12878	blood:	n/a	n/a
15	ATF2	chr13:111097401-111097980	GM12878	blood:	n/a	n/a
16	ATF2	chr13:111123286-111124549	GM12878	blood:	n/a	n/a
17	ATF2	chr13:111097604-111097976	GM12878	blood:	n/a	n/a
18	ATF2	chr13:111123308-111124511	GM12878	blood:	n/a	n/a
19	ATF2	chr13:111108137-111108738	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr13:111096102-111096552	GM12878	blood:	n/a	n/a
21	ATF2	chr13:111064382-111064957	GM12878	blood:	n/a	n/a
22	ATF2	chr13:111064432-111064984	GM12878	blood:	n/a	n/a
23	ATF2	chr13:111099326-111099711	GM12878	blood:	n/a	n/a
24	ATF2	chr13:111074050-111074413	GM12878	blood:	n/a	n/a
25	ATF3	chr13:111064462-111064891	A549	lung:	n/a	n/a
26	ATF3	chr13:111064483-111064866	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr13:111064493-111064953	K562	blood:	n/a	n/a
28	ATF3	chr13:111064596-111064852	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF3	chr13:111124155-111124470	K562	blood:	n/a	n/a
30	BACH1	chr13:111064650-111064967	K562	blood:	n/a	chr13:111064667-111064681
31	BACH1	chr13:111108240-111108761	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr13:111103353-111103522	K562	blood:	n/a	n/a
33	BACH1	chr13:111108263-111108629	K562	blood:	n/a	n/a
34	BACH1	chr13:111040578-111041153	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr13:111040910-111041123	K562	blood:	n/a	n/a
36	BACH1	chr13:111064516-111064993	H1-hESC	embryonic stem cell:	n/a	chr13:111064667-111064681
37	BACH1	chr13:111045252-111045520	H1-hESC	embryonic stem cell:	n/a	n/a
38	BATF	chr13:111124029-111124464	GM12878	blood:	n/a	n/a
39	BATF	chr13:111108314-111108630	GM12878	blood:	n/a	n/a
40	BATF	chr13:111074101-111074403	GM12878	blood:	n/a	n/a
41	BATF	chr13:111064445-111064871	GM12878	blood:	n/a	chr13:111064666-111064677 chr13:111064667-111064677
42	BATF	chr13:111097545-111097955	GM12878	blood:	n/a	chr13:111097754-111097765
43	BATF	chr13:111124120-111124434	GM12878	blood:	n/a	n/a
44	BATF	chr13:111096675-111097083	GM12878	blood:	n/a	n/a
45	BATF	chr13:111096226-111096486	GM12878	blood:	n/a	n/a
46	BATF	chr13:111099348-111099531	GM12878	blood:	n/a	n/a
47	BCL11A	chr13:111074073-111074428	GM12878	blood:	n/a	n/a
48	BCL11A	chr13:111097504-111097994	GM12878	blood:	n/a	n/a
49	BCL11A	chr13:111124004-111124511	GM12878	blood:	n/a	n/a
50	BCL11A	chr13:111099357-111099602	GM12878	blood:	n/a	chr13:111099493-111099502 chr13:111099560-111099573

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111128102-111128152	HIPEpiC	eye:	n/a
2	chr13:111090821-111090871	HRCEpiC	kidney:	n/a
3	chr13:111128071-111128121	HRE	kidney:	n/a
4	chr13:111087296-111087346	Jurkat	blood:	n/a
5	chr13:111128102-111128152	HIPEpiC	eye:	n/a
6	chr13:111090821-111090871	HRCEpiC	kidney:	n/a
7	chr13:111128071-111128121	HRE	kidney:	n/a
8	chr13:111087296-111087346	Jurkat	blood:	n/a
9	chr13:111061002-111061052	AG10803	skin:	n/a
10	chr13:111077219-111077269	PrEC	prostate:	n/a
11	chr13:111061859-111061909	K562	blood:	n/a
12	chr13:111100156-111100206	BJ	skin:	n/a
13	chr13:111057782-111057832	HRCEpiC	kidney:	n/a
14	chr13:111127601-111127651	HMEC	breast:	n/a
15	chr13:111117889-111117939	GM12891	blood:	n/a
16	chr13:111058285-111058335	SK-N-SH	brain:	n/a
17	chr13:111090821-111090871	IMR90	lung:	fetal
18	chr13:111043744-111043794	HCM	heart:	n/a
19	chr13:111117889-111117939	K562	blood:	n/a
20	chr13:111102316-111102366	SAEC	small airway:	n/a
21	chr13:111090821-111090871	ECC-1	luminal epithelium:	n/a
22	chr13:111062247-111062297	GM19239	blood:	n/a
23	chr13:111059652-111059702	SK-N-MC	brain:	n/a
24	chr13:111109651-111109701	GM19239	blood:	n/a
25	chr13:111113412-111113462	BJ	skin:	n/a
26	chr13:111062266-111062316	HIPEpiC	eye:	n/a
27	chr13:111128071-111128121	NHBE	bronchial:	n/a
28	chr13:111096339-111096389	NHBE	bronchial:	n/a
29	chr13:111062247-111062297	HCF	heart:	n/a
30	chr13:111090898-111090948	HRCEpiC	kidney:	n/a
31	chr13:111061780-111061830	Hela-S3	cervix:	n/a
32	chr13:111100754-111100804	AG04450	lung:	fetal
33	chr13:111109497-111109547	SAEC	small airway:	n/a
34	chr13:111090433-111090483	HCF	heart:	n/a
35	chr13:111100098-111100148	SKMC	muscle:	n/a
36	chr13:111061133-111061183	U87	brain:	n/a
37	chr13:111096339-111096389	HPAEpiC	pulmonary alveolar:	n/a
38	chr13:111065189-111065239	AG09309	skin:	n/a
39	chr13:111062247-111062297	AG09319	gingival:	n/a
40	chr13:111113412-111113462	MCF10A-Er-Src	breast:	n/a
41	chr13:111043744-111043794	SKMC	muscle:	n/a
42	chr13:111062266-111062316	LNCaP	prostate:	n/a
43	chr13:111107075-111107125	BJ	skin:	n/a
44	chr13:111061002-111061052	BJ	skin:	n/a
45	chr13:111123159-111123209	HCF	heart:	n/a
46	chr13:111090669-111090719	AoSMC	blood vessel:	n/a
47	chr13:111089028-111089078	HCF	heart:	n/a
48	chr13:111100098-111100148	AG10803	skin:	n/a
49	chr13:111128102-111128152	SAEC	small airway:	n/a
50	chr13:111100754-111100804	CMK	blood:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:111037314..111040155-chr13:111051722..111054664,2	K562	blood:
2	chr13:111123294..111125798-chr13:111130475..111133407,2	K562	blood:
3	chr13:111074584..111076836-chr13:111085848..111088108,2	K562	blood:
4	chr13:111106451..111110358-chr13:111364193..111366968,4	K562	blood:
5	chr13:111104435..111110355-chr13:111364229..111367898,5	MCF-7	breast:
6	chr13:111107007..111108826-chr13:111174960..111176925,2	MCF-7	breast:
7	chr13:111106557..111109185-chr13:111212224..111215375,3	MCF-7	breast:
8	chr13:111107216..111109712-chr13:111113064..111115037,2	K562	blood:
9	chr13:111108088..111108850-chr13:111179257..111180150,2	K562	blood:
10	chr13:111074584..111076836-chr13:111085848..111088108,2	K562	blood:
11	chr13:111100852..111102646-chr13:111187472..111189317,2	MCF-7	breast:
12	chr13:111123294..111125798-chr13:111130475..111133407,2	K562	blood:
13	chr13:110926826..110927499-chr13:111064292..111064841,2	MCF-7	breast:
14	chr13:111064820..111066912-chr13:111364451..111367008,2	K562	blood:
15	chr13:111131234..111133582-chr13:111158039..111159936,2	K562	blood:
16	chr13:111107934..111108475-chr13:111213682..111214212,2	K562	blood:
17	chr13:111099808..111102511-chr13:111103410..111106369,2	K562	blood:
18	chr13:111099271..111103584-chr13:111104898..111108256,4	MCF-7	breast:
19	chr13:111071549..111074478-chr13:111087291..111089647,2	K562	blood:
20	chr13:111107610..111109499-chr13:111162077..111163995,2	K562	blood:
21	chr13:111106958..111108527-chr13:111207084..111209733,2	MCF-7	breast:
22	chr13:111072172..111074783-chr13:111081415..111083238,2	K562	blood:
23	chr13:111063956..111066256-chr13:111066546..111068934,2	K562	blood:
24	chr13:111071549..111074478-chr13:111087291..111089647,2	K562	blood:
25	chr13:111084219..111086647-chr13:111094030..111095986,2	MCF-7	breast:
26	chr13:111111504..111113715-chr13:111115941..111118530,2	K562	blood:
27	chr13:111111504..111113715-chr13:111115941..111118530,2	K562	blood:
28	chr13:110874131..110875670-chr13:111096283..111097578,7	MCF-7	breast:
29	chr13:111107942..111108582-chr13:111159705..111160630,4	MCF-7	breast:
30	chr13:111064379..111065184-chr13:111096354..111096894,3	MCF-7	breast:
31	chr13:111042974..111045248-chr13:111048592..111050627,2	MCF-7	breast:
32	chr13:111084230..111086332-chr13:111365214..111367744,2	K562	blood:
33	chr13:110899641..110900501-chr13:111064285..111065117,5	MCF-7	breast:
34	chr13:111107847..111110592-chr13:111111239..111113236,3	MCF-7	breast:
35	chr13:111125375..111127376-chr13:111131017..111133682,2	K562	blood:
36	chr13:111108605..111110640-chr13:111363694..111365787,2	MCF-7	breast:
37	chr13:111105537..111108314-chr13:111364006..111365730,2	MCF-7	breast:
38	chr13:111107824..111108748-chr13:111297271..111297854,2	MCF-7	breast:
39	chr13:111064379..111065184-chr13:111096354..111096894,3	MCF-7	breast:
40	chr12:48286253..48286993-chr13:111096495..111097274,2	MCF-7	breast:
41	chr13:111100223..111102719-chr13:111364020..111365835,2	MCF-7	breast:
42	chr13:111042974..111045248-chr13:111048592..111050627,2	MCF-7	breast:
43	chr13:111125375..111127376-chr13:111131017..111133682,2	K562	blood:
44	chr13:111123579..111125936-chr13:111162097..111164181,2	K562	blood:
45	chr13:111121757..111123595-chr13:111366251..111368127,2	K562	blood:
46	chr13:111084219..111086647-chr13:111094030..111095986,2	MCF-7	breast:
47	chr13:111106850..111109675-chr13:111241801..111244096,2	MCF-7	breast:
48	chr13:111035825..111038178-chr13:111040396..111042030,2	K562	blood:
49	chr13:111107847..111110592-chr13:111111239..111113236,3	MCF-7	breast:
50	chr13:111099271..111103584-chr13:111104898..111108256,4	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-AS2-1	chr13:111115370-111115634	ENSG00000224821.5
2	lnc-CARKD-3	chr13:111082398-111082783	NONHSAT035146
3	lnc-COL4A2-AS2-1	chr13:111110438-111110633	ENSG00000224821.5
4	lnc-COL4A2-AS2-1	chr13:111108743-111109703	ENSG00000224821.5
5	lnc-CARKD-3	chr13:111082892-111083230	NONHSAT035146
6	lnc-COL4A2-AS2-1	chr13:111110030-111110066	ENSG00000224821.5
7	lnc-COL4A2-AS2-1	chr13:111109872-111109934	ENSG00000224821.5

No data

Variant related genes	Relation type
COL4A2-AS2	TF binding region
ENSG00000238629	TF binding region
COL4A2	TF binding region
COL4A2-AS2	CpG island
ENSG00000238629	CpG island
COL4A2	CpG island
ENSG00000139832	chromatin interactions
ENSG00000232814	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000134871	chromatin interactions
ENSG00000238629	chromatin interactions
ENSG00000134905	chromatin interactions

Extended variants
information (count: 4381 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:4381 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9515201	chr13:111040798-111040799	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184280276	chr13:111040816-111040817	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs147047233	chr13:111040817-111040818	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs535668309	chr13:111040835-111040836	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs553998157	chr13:111040886-111040887	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs9515202	chr13:111040918-111040919	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs138281616	chr13:111040934-111040935	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs558127989	chr13:111041013-111041014	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs370352169	chr13:111041024-111041025	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs35001369	chr13:111041062-111041063	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs532409376	chr13:111041101-111041102	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs544281840	chr13:111041102-111041103	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs556004534	chr13:111041105-111041106	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs574549157	chr13:111041189-111041190	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs542046391	chr13:111041199-111041200	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs76446482	chr13:111041200-111041201	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs144853624	chr13:111041231-111041232	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs142327093	chr13:111041273-111041274	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs546163961	chr13:111041287-111041288	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs187070174	chr13:111041318-111041319	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs76865223	chr13:111041327-111041328	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs531642232	chr13:111041330-111041331	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs550213763	chr13:111041346-111041347	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs148314422	chr13:111041430-111041431	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs529406766	chr13:111041511-111041512	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs4773174	chr13:111041530-111041531	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs565981511	chr13:111041552-111041553	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs114715991	chr13:111041572-111041573	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs557751411	chr13:111041588-111041589	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs551824181	chr13:111041589-111041590	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs141523046	chr13:111041619-111041620	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150876422	chr13:111041654-111041655	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556179603	chr13:111041688-111041689	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188619692	chr13:111041693-111041694	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs138348135	chr13:111041709-111041710	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554003774	chr13:111041739-111041740	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs572297084	chr13:111041758-111041759	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs143042756	chr13:111041762-111041763	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530441079	chr13:111041811-111041812	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74803518	chr13:111041817-111041818	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145947229	chr13:111041818-111041819	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543462315	chr13:111041864-111041865	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548456268	chr13:111041875-111041876	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35926946	chr13:111041878-111041879	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76067633	chr13:111041886-111041887	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75821861	chr13:111041892-111041893	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191603982	chr13:111041893-111041894	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559506816	chr13:111041897-111041898	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368506280	chr13:111041903-111041904	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370466890	chr13:111041912-111041913	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3266 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111034000-111041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:111038400-111044200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:111038600-111041200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:111038800-111041000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:111039200-111041400	Enhancers	Fetal Thymus	thymus
6	chr13:111039200-111045600	Enhancers	Placenta	Placenta
7	chr13:111039400-111041800	Enhancers	Fetal Stomach	stomach
8	chr13:111039600-111040800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:111039600-111040800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:111039600-111040800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr13:111039600-111040800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:111039600-111041000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:111039600-111041000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:111039600-111041000	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr13:111039600-111041200	Enhancers	Lung	lung
16	chr13:111039600-111041400	Enhancers	Esophagus	oesophagus
17	chr13:111039600-111041600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:111039600-111041600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:111039600-111041600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:111039600-111041800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr13:111039600-111042000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:111039800-111040800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:111039800-111041000	Enhancers	Primary hematopoietic stem cells	blood
24	chr13:111039800-111041000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr13:111039800-111041000	Flanking Active TSS	HMEC	breast
26	chr13:111039800-111041000	Flanking Active TSS	NHEK	skin
27	chr13:111039800-111041400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr13:111039800-111041400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:111039800-111041400	Flanking Active TSS	HSMM	muscle
30	chr13:111039800-111042600	Genic enhancers	NH-A	brain
31	chr13:111040000-111040800	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr13:111040000-111040800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr13:111040000-111041000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr13:111040000-111041000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr13:111040000-111041200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr13:111040000-111041400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr13:111040000-111041400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:111040000-111041400	Enhancers	Duodenum Mucosa	Duodenum
39	chr13:111040000-111041600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr13:111040000-111041600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
41	chr13:111040200-111040800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr13:111040200-111040800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:111040200-111040800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr13:111040200-111040800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:111040200-111040800	Enhancers	Gastric	stomach
46	chr13:111040200-111040800	Flanking Active TSS	HSMMtube	muscle
47	chr13:111040200-111040800	Flanking Active TSS	NHDF-Ad	bronchial
48	chr13:111040200-111040800	Flanking Active TSS	NHLF	lung
49	chr13:111040200-111041000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:111040200-111041000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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