Variant report

Variant	esv3392811
Chromosome Location	chr6:31864198-31866746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:619)
CpG islands
(count:2321)
Chromatin interactive
region (count:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:31865521-31865662	HepG2	liver:	n/a	n/a
2	ATF2	chr6:31865449-31866277	GM12878	blood:	n/a	n/a
3	ATF3	chr6:31865358-31865680	GM12878	blood:	n/a	n/a
4	ATF3	chr6:31865397-31865665	GM12878	blood:	n/a	n/a
5	ATF3	chr6:31865336-31865746	K562	blood:	n/a	chr6:31865348-31865357
6	ATF3	chr6:31865393-31865581	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr6:31865300-31865665	HepG2	liver:	n/a	chr6:31865348-31865357
8	BACH1	chr6:31865475-31865607	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr6:31865516-31866626	A549	lung:	n/a	n/a
10	BCL3	chr6:31865934-31866412	A549	lung:	n/a	n/a
11	BHLHE40	chr6:31865521-31865544	A549	lung:	n/a	n/a
12	BHLHE40	chr6:31865008-31865743	HepG2	liver:	n/a	chr6:31865197-31865213 chr6:31865051-31865067
13	BHLHE40	chr6:31864968-31866504	K562	blood:	n/a	chr6:31865197-31865213 chr6:31865051-31865067
14	BHLHE40	chr6:31865026-31865739	GM12878	blood:	n/a	chr6:31865197-31865213 chr6:31865051-31865067
15	BRCA1	chr6:31865937-31866511	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr6:31865390-31866734	K562	blood:	n/a	n/a
17	CCNT2	chr6:31866130-31866152	K562	blood:	n/a	n/a
18	CCNT2	chr6:31864877-31865761	K562	blood:	n/a	chr6:31865396-31865405
19	CEBPB	chr6:31865390-31865726	Hela-S3	cervix:	n/a	n/a
20	CEBPD	chr6:31864817-31865721	HepG2	liver:	n/a	n/a
21	CEBPD	chr6:31865285-31865703	HepG2	liver:	n/a	n/a
22	CHD1	chr6:31865576-31865658	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr6:31865392-31865751	GM12878	blood:	n/a	n/a
24	CHD2	chr6:31865370-31865694	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr6:31866197-31866503	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr6:31865568-31865768	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr6:31865491-31865526	HepG2	liver:	n/a	n/a
28	CREB1	chr6:31865238-31865576	A549	lung:	n/a	n/a
29	CREB1	chr6:31865008-31866882	HepG2	liver:	n/a	n/a
30	CREB1	chr6:31865958-31866422	ECC-1	luminal epithelium:	n/a	n/a
31	CTCF	chr6:31865372-31865548	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr6:31866180-31866330	HVMF	connective:	n/a	n/a
33	CTCF	chr6:31866220-31866370	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr6:31866180-31866330	NB4	blood:	n/a	n/a
35	CTCF	chr6:31865100-31865250	GM12868	blood:	n/a	n/a
36	CTCF	chr6:31866240-31866390	HepG2	liver:	n/a	n/a
37	CTCF	chr6:31865400-31865550	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr6:31865380-31865530	HMF	breast:	n/a	n/a
39	CTCF	chr6:31866180-31866330	GM12872	blood:	n/a	n/a
40	CTCF	chr6:31866120-31866270	RPTEC	kidney:	n/a	n/a
41	CTCF	chr6:31864700-31864850	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr6:31865380-31865530	GM12873	blood:	n/a	n/a
43	CTCF	chr6:31865460-31865610	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr6:31866260-31866410	A549	lung:	n/a	n/a
45	CTCF	chr6:31866293-31866309	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr6:31865320-31865470	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr6:31865320-31865470	SAEC	small airway:	n/a	n/a
48	CTCF	chr6:31865420-31865570	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr6:31865478-31865640	GM12878	blood:	n/a	n/a
50	CTCF	chr6:31865720-31865870	SAEC	small airway:	n/a	n/a

(count:2321 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31866286-31866336	HRPEpiC	eye:	n/a
2	chr6:31865900-31865950	HUVEC	blood vessel:	n/a
3	chr6:31865892-31865942	PANC-1	pancreas:	n/a
4	chr6:31866286-31866336	HRPEpiC	eye:	n/a
5	chr6:31865900-31865950	HUVEC	blood vessel:	n/a
6	chr6:31865892-31865942	PANC-1	pancreas:	n/a
7	chr6:31865522-31865572	GM06990	blood:	n/a
8	chr6:31865911-31865961	BE2_C	brain:	n/a
9	chr6:31865522-31865572	BE2_C	brain:	n/a
10	chr6:31864574-31864624	NB4	blood:	n/a
11	chr6:31865268-31865318	U87	brain:	n/a
12	chr6:31866586-31866636	SK-N-MC	brain:	n/a
13	chr6:31864236-31864286	HepG2	liver:	n/a
14	chr6:31865084-31865134	HL-60	blood:	n/a
15	chr6:31865663-31865713	PANC-1	pancreas:	n/a
16	chr6:31865086-31865136	SK-N-SH	brain:	n/a
17	chr6:31866020-31866070	AG09319	gingival:	n/a
18	chr6:31866586-31866636	IMR90	lung:	fetal
19	chr6:31866068-31866118	SKMC	muscle:	n/a
20	chr6:31865578-31865628	HRE	kidney:	n/a
21	chr6:31866586-31866636	HCF	heart:	n/a
22	chr6:31866286-31866336	Caco-2	colon:	n/a
23	chr6:31865866-31865916	HPAEpiC	pulmonary alveolar:	n/a
24	chr6:31866063-31866113	MCF10A-Er-Src	breast:	n/a
25	chr6:31865084-31865134	HEEpiC	esophagus:	n/a
26	chr6:31865522-31865572	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:31865866-31865916	HAEpiC	amniotic membrane:	n/a
28	chr6:31866072-31866122	HUVEC	blood vessel:	n/a
29	chr6:31866508-31866558	ProgFib	skin:	n/a
30	chr6:31864706-31864756	HNPCEpiC	eye:	n/a
31	chr6:31865118-31865168	ECC-1	luminal epithelium:	n/a
32	chr6:31865866-31865916	AG10803	skin:	n/a
33	chr6:31865892-31865942	HL-60	blood:	n/a
34	chr6:31865900-31865950	HL-60	blood:	n/a
35	chr6:31865753-31865803	SKMC	muscle:	n/a
36	chr6:31865669-31865719	HMEC	breast:	n/a
37	chr6:31865274-31865324	ovcar-3	ovarian:	n/a
38	chr6:31865095-31865145	AG10803	skin:	n/a
39	chr6:31866255-31866305	Hepatocyte	liver:	n/a
40	chr6:31866072-31866122	AG04449	skin:	fetal
41	chr6:31866508-31866558	HRPEpiC	eye:	n/a
42	chr6:31865268-31865318	NT2-D1	testis:	n/a
43	chr6:31866072-31866122	MCF10A-Er-Src	breast:	n/a
44	chr6:31866117-31866167	BJ	skin:	n/a
45	chr6:31865753-31865803	LNCaP	prostate:	n/a
46	chr6:31866037-31866087	Hepatocyte	liver:	n/a
47	chr6:31865663-31865713	IMR90	lung:	fetal
48	chr6:31866117-31866167	HRE	kidney:	n/a
49	chr6:31866508-31866558	PANC-1	pancreas:	n/a
50	chr6:31865911-31865961	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:31862589..31864971-chr6:31865421..31867201,2	MCF-7	breast:
2	chr6:31793170..31796834-chr6:31863715..31868848,6	K562	blood:
3	chr6:31740931..31743197-chr6:31865687..31868469,2	MCF-7	breast:
4	chr6:31864770..31867210-chr6:31916768..31918647,2	K562	blood:
5	chr6:31829731..31832430-chr6:31863949..31866099,3	K562	blood:
6	chr6:31850468..31854025-chr6:31863862..31867993,5	MCF-7	breast:
7	chr6:31843997..31846007-chr6:31863630..31865953,2	K562	blood:
8	chr6:31836750..31839391-chr6:31864326..31866210,2	K562	blood:
9	chr6:31863628..31867852-chr6:31937946..31941812,10	MCF-7	breast:
10	chr6:31618325..31621676-chr6:31863690..31867276,5	K562	blood:
11	chr6:31851566..31853842-chr6:31864020..31866737,2	MCF-7	breast:
12	chr6:31798354..31804916-chr6:31860790..31871982,18	MCF-7	breast:
13	chr6:31864040..31872511-chr6:31917614..31930102,27	MCF-7	breast:
14	chr6:31618484..31622073-chr6:31864833..31868659,4	K562	blood:
15	chr6:31800669..31805219-chr6:31862460..31868046,11	K562	blood:
16	chr6:31863494..31865862-chr6:32150158..32153094,2	K562	blood:
17	chr6:31828023..31833065-chr6:31863439..31869544,9	K562	blood:
18	chr6:31864068..31872693-chr6:31934470..31941847,12	MCF-7	breast:
19	chr6:31862879..31872535-chr6:31911667..31928766,47	MCF-7	breast:
20	chr6:31800867..31807275-chr6:31862460..31868132,16	K562	blood:
21	chr6:31705886..31708099-chr6:31864785..31867152,2	K562	blood:
22	chr6:31629180..31631831-chr6:31863567..31866267,3	K562	blood:
23	chr6:31861403..31866645-chr6:31932025..31935945,5	MCF-7	breast:
24	chr6:31668504..31670633-chr6:31865302..31866839,2	K562	blood:
25	chr6:31780956..31783456-chr6:31865283..31866829,2	K562	blood:
26	chr6:31863902..31865476-chr6:32142561..32145148,2	K562	blood:
27	chr6:31801734..31803566-chr6:31863143..31864724,2	MCF-7	breast:
28	chr6:31627970..31635325-chr6:31864036..31871429,12	K562	blood:
29	chr6:31864712..31866806-chr6:31924793..31927734,3	K562	blood:
30	chr6:31761655..31763549-chr6:31865451..31867211,2	MCF-7	breast:
31	chr6:31844613..31847430-chr6:31865372..31868871,3	MCF-7	breast:
32	chr6:31862589..31864971-chr6:31865421..31867201,2	MCF-7	breast:
33	chr6:31801616..31806746-chr6:31865132..31870777,8	MCF-7	breast:
34	chr6:31793567..31795158-chr6:31866133..31867825,2	MCF-7	breast:
35	chr6:31856075..31861147-chr6:31862978..31867521,9	K562	blood:
36	chr6:31836840..31843251-chr6:31862592..31868285,8	MCF-7	breast:
37	chr6:31866210..31871385-chr6:31935988..31941288,8	K562	blood:
38	chr6:31795475..31798260-chr6:31864062..31867064,3	K562	blood:
39	chr6:31865653..31867869-chr6:31911322..31913158,2	MCF-7	breast:
40	chr6:31864683..31867105-chr6:31939845..31941610,2	K562	blood:
41	chr6:31829900..31830743-chr6:31865500..31866056,2	MCF-7	breast:
42	chr6:31780574..31784383-chr6:31865157..31867218,4	K562	blood:
43	chr6:31865326..31867816-chr6:32162690..32165281,2	K562	blood:
44	chr6:31859669..31862692-chr6:31863697..31866493,6	MCF-7	breast:
45	chr6:31864133..31871768-chr6:31886295..31891953,13	MCF-7	breast:
46	chr6:31864115..31868338-chr6:31917147..31921993,5	K562	blood:
47	chr6:31762561..31765176-chr6:31866590..31868817,2	MCF-7	breast:
48	chr6:31830083..31833987-chr6:31862759..31865610,4	MCF-7	breast:
49	chr6:31758020..31763887-chr6:31863868..31868391,6	K562	blood:
50	chr6:31743040..31745284-chr6:31866637..31868631,2	K562	blood:

No data

Variant related genes	Relation type
C2	TF binding region
EHMT2	TF binding region
C2	CpG island
EHMT2	CpG island
ENSG00000243649	chromatin interactions
ENSG00000265236	chromatin interactions
ENSG00000201207	chromatin interactions
ENSG00000266776	chromatin interactions
ENSG00000204371	chromatin interactions
ENSG00000204394	chromatin interactions
ENSG00000204344	chromatin interactions
ENSG00000263020	chromatin interactions
ENSG00000204386	chromatin interactions
ENSG00000204388	chromatin interactions
ENSG00000201823	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000204301	chromatin interactions
ENSG00000204427	chromatin interactions
ENSG00000221267	chromatin interactions
ENSG00000204305	chromatin interactions
ENSG00000237080	chromatin interactions
ENSG00000204410	chromatin interactions
ENSG00000204348	chromatin interactions
ENSG00000204439	chromatin interactions
ENSG00000213719	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000204444	chromatin interactions
ENSG00000166278	chromatin interactions
ENSG00000204385	chromatin interactions
ENSG00000204435	chromatin interactions
ENSG00000204396	chromatin interactions
ENSG00000198563	chromatin interactions
ENSG00000213654	chromatin interactions
ENSG00000201754	chromatin interactions
ENSG00000204356	chromatin interactions
ENSG00000255152	chromatin interactions
ENSG00000204387	chromatin interactions
ENSG00000204351	chromatin interactions
ENSG00000204310	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000204438	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 132 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201099958	chr6:31864201-31864202	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
2	rs557553883	chr6:31864265-31864266	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
3	rs369712502	chr6:31864296-31864297	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
4	rs373341395	chr6:31864299-31864300	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
5	rs659445	chr6:31864304-31864305	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	28 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs536778504	chr6:31864309-31864310	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
7	rs370345573	chr6:31864320-31864321	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
8	rs558127772	chr6:31864375-31864376	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
9	rs374600328	chr6:31864380-31864381	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
10	rs189424161	chr6:31864395-31864396	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
11	rs368423097	chr6:31864405-31864406	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
12	rs149384831	chr6:31864410-31864411	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
13	rs372420639	chr6:31864468-31864469	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
14	rs552947806	chr6:31864497-31864498	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
15	rs115884658	chr6:31864538-31864539	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
16	rs7887	chr6:31864547-31864548	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs181397127	chr6:31864549-31864550	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
18	rs146596577	chr6:31864550-31864551	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
19	rs145301381	chr6:31864599-31864600	Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
20	rs375746385	chr6:31864640-31864641	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
21	rs546364077	chr6:31864644-31864645	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
22	rs200431711	chr6:31864651-31864652	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
23	rs201468672	chr6:31864667-31864668	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
24	rs111309115	chr6:31864677-31864678	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
25	rs368429939	chr6:31864679-31864680	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
26	rs186541170	chr6:31864680-31864681	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
27	rs568631392	chr6:31864692-31864693	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
28	rs529607342	chr6:31864711-31864712	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
29	rs137935535	chr6:31864741-31864742	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
30	rs550873373	chr6:31864783-31864784	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
31	rs569481596	chr6:31864784-31864785	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
32	rs201479628	chr6:31864793-31864794	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
33	rs536740679	chr6:31864823-31864824	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
34	rs199812430	chr6:31864831-31864832	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
35	rs558191298	chr6:31864833-31864834	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
36	rs570218496	chr6:31864835-31864836	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
37	rs534294301	chr6:31864888-31864889	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
38	rs369017168	chr6:31864920-31864921	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
39	rs574633010	chr6:31864929-31864930	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
40	rs542131856	chr6:31865022-31865023	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
41	rs556871933	chr6:31865086-31865087	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
42	rs575548873	chr6:31865171-31865172	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
43	rs144725072	chr6:31865352-31865353	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
44	rs112685574	chr6:31865361-31865362	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
45	rs564523323	chr6:31865582-31865583	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
46	rs528617300	chr6:31865684-31865685	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
47	rs540227717	chr6:31865721-31865722	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
48	rs562147290	chr6:31865752-31865753	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
49	rs372445727	chr6:31865763-31865764	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
50	rs148525479	chr6:31865868-31865869	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:132)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ovarian cancer	21781307	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31833200-31864200	Weak transcription	Fetal Heart	heart
2	chr6:31847200-31864200	Strong transcription	Fetal Stomach	stomach
3	chr6:31847200-31864200	Strong transcription	Thymus	Thymus
4	chr6:31847400-31864200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:31847400-31864200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:31847400-31864200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:31847400-31864400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:31847400-31864400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:31847600-31864200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:31847800-31864200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:31847800-31864400	Strong transcription	Fetal Intestine Large	intestine
12	chr6:31847800-31864400	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:31848000-31864200	Strong transcription	Fetal Muscle Leg	muscle
14	chr6:31848000-31864200	Strong transcription	Placenta	Placenta
15	chr6:31851600-31864400	Weak transcription	Psoas Muscle	Psoas
16	chr6:31854000-31864200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:31855400-31864400	Weak transcription	Stomach Mucosa	stomach
18	chr6:31856200-31864600	Weak transcription	Small Intestine	intestine
19	chr6:31856400-31864600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:31856800-31864200	Weak transcription	Right Atrium	heart
21	chr6:31857800-31864400	Weak transcription	HSMMtube	muscle
22	chr6:31858800-31864200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:31859400-31864400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:31860800-31864400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:31860800-31864400	Weak transcription	Colonic Mucosa	Colon
26	chr6:31860800-31864600	Weak transcription	Aorta	Aorta
27	chr6:31861200-31864400	Weak transcription	Gastric	stomach
28	chr6:31861200-31864400	Weak transcription	HUVEC	blood vessel
29	chr6:31861200-31864400	Weak transcription	NHEK	skin
30	chr6:31861400-31864200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:31861400-31864200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:31861400-31864400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr6:31861400-31864400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:31861400-31864400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:31861400-31864400	Weak transcription	Right Ventricle	heart
36	chr6:31861400-31864400	Weak transcription	NHDF-Ad	bronchial
37	chr6:31861600-31864200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:31861600-31864400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:31861600-31864400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr6:31861600-31864600	Weak transcription	Ovary	ovary
41	chr6:31861800-31864200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:31862800-31864200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:31862800-31864400	Strong transcription	Fetal Lung	lung
44	chr6:31863000-31864200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:31863000-31864200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:31863200-31864200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:31863200-31864200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:31863200-31864400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:31863200-31864400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:31863200-31864400	Weak transcription	NH-A	brain

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