Variant report

Variant	nsv593208
Chromosome Location	chr4:668000-682233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:681027-681282	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:667994-668253	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:668494-668678	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:677805-678057	HepG2	liver:	n/a	n/a
5	ATF1	chr4:667947-668423	K562	blood:	n/a	n/a
6	ATF2	chr4:669916-670291	GM12878	blood:	n/a	n/a
7	ATF2	chr4:667978-668446	GM12878	blood:	n/a	chr4:668214-668225
8	ATF2	chr4:667859-668522	H1-hESC	embryonic stem cell:	n/a	chr4:668214-668225
9	ATF2	chr4:669990-670459	GM12878	blood:	n/a	n/a
10	ATF2	chr4:667877-668505	GM12878	blood:	n/a	chr4:668214-668225
11	ATF2	chr4:667935-668573	H1-hESC	embryonic stem cell:	n/a	chr4:668214-668225
12	ATF3	chr4:667983-668371	A549	lung:	n/a	chr4:668212-668223 chr4:668213-668226 chr4:668213-668223 chr4:668166-668175 chr4:668209-668229 chr4:668214-668225 chr4:668216-668224 chr4:668213-668224 chr4:668220-668229 chr4:668215-668223 chr4:668213-668223 chr4:668216-668223 chr4:668215-668235 chr4:668216-668226 chr4:668212-668225 chr4:668213-668226 chr4:668214-668225 chr4:668204-668224 chr4:668212-668227 chr4:668214-668227
13	ATF3	chr4:667909-668337	A549	lung:	n/a	chr4:668212-668223 chr4:668213-668226 chr4:668213-668223 chr4:668166-668175 chr4:668209-668229 chr4:668214-668225 chr4:668216-668224 chr4:668213-668224 chr4:668220-668229 chr4:668215-668223 chr4:668213-668223 chr4:668216-668223 chr4:668215-668235 chr4:668216-668226 chr4:668212-668225 chr4:668213-668226 chr4:668214-668225 chr4:668204-668224 chr4:668212-668227 chr4:668214-668227
14	ATF3	chr4:668047-668312	GM12878	blood:	n/a	chr4:668212-668223 chr4:668213-668226 chr4:668213-668223 chr4:668166-668175 chr4:668209-668229 chr4:668214-668225 chr4:668216-668224 chr4:668213-668224 chr4:668220-668229 chr4:668215-668223 chr4:668213-668223 chr4:668216-668223 chr4:668215-668235 chr4:668216-668226 chr4:668212-668225 chr4:668213-668226 chr4:668214-668225 chr4:668204-668224 chr4:668212-668227 chr4:668214-668227
15	ATF3	chr4:667997-668376	K562	blood:	n/a	chr4:668212-668223 chr4:668213-668226 chr4:668213-668223 chr4:668166-668175 chr4:668209-668229 chr4:668214-668225 chr4:668216-668224 chr4:668213-668224 chr4:668220-668229 chr4:668215-668223 chr4:668213-668223 chr4:668216-668223 chr4:668215-668235 chr4:668216-668226 chr4:668212-668225 chr4:668213-668226 chr4:668214-668225 chr4:668204-668224 chr4:668212-668227 chr4:668214-668227
16	ATF3	chr4:681033-681383	K562	blood:	n/a	n/a
17	ATF3	chr4:667981-668437	GM12878	blood:	n/a	chr4:668212-668223 chr4:668213-668226 chr4:668213-668223 chr4:668166-668175 chr4:668209-668229 chr4:668214-668225 chr4:668216-668224 chr4:668213-668224 chr4:668220-668229 chr4:668215-668223 chr4:668213-668223 chr4:668216-668223 chr4:668215-668235 chr4:668216-668226 chr4:668212-668225 chr4:668213-668226 chr4:668214-668225 chr4:668204-668224 chr4:668212-668227 chr4:668214-668227
18	BACH1	chr4:677905-678052	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:674890-675090	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:668036-668595	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:681046-681419	K562	blood:	n/a	n/a
22	BACH1	chr4:677579-677605	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr4:671719-672186	GM12878	blood:	n/a	n/a
24	BCL3	chr4:667864-668316	A549	lung:	n/a	chr4:668168-668181 chr4:668200-668213
25	BCL3	chr4:679340-679623	GM12878	blood:	n/a	chr4:679502-679511
26	BCLAF1	chr4:667941-668660	GM12878	blood:	n/a	chr4:668168-668181 chr4:668200-668213
27	BCLAF1	chr4:669676-670454	GM12878	blood:	n/a	n/a
28	BHLHE40	chr4:668980-669273	GM12878	blood:	n/a	n/a
29	BHLHE40	chr4:680908-682002	K562	blood:	n/a	n/a
30	BHLHE40	chr4:671777-672089	GM12878	blood:	n/a	n/a
31	BHLHE40	chr4:669804-670628	GM12878	blood:	n/a	n/a
32	BHLHE40	chr4:667941-668432	HepG2	liver:	n/a	chr4:668220-668229 chr4:668214-668235 chr4:668218-668231 chr4:668220-668229 chr4:668219-668228
33	BHLHE40	chr4:674775-675813	K562	blood:	n/a	n/a
34	BHLHE40	chr4:668728-668786	K562	blood:	n/a	n/a
35	BHLHE40	chr4:675165-675801	HepG2	liver:	n/a	n/a
36	BHLHE40	chr4:678828-679130	HepG2	liver:	n/a	n/a
37	BHLHE40	chr4:669060-669259	K562	blood:	n/a	n/a
38	BHLHE40	chr4:667918-668524	K562	blood:	n/a	chr4:668220-668229 chr4:668214-668235 chr4:668218-668231 chr4:668220-668229 chr4:668219-668228
39	BHLHE40	chr4:677831-678024	GM12878	blood:	n/a	n/a
40	BHLHE40	chr4:675016-675393	GM12878	blood:	n/a	n/a
41	BHLHE40	chr4:680924-681586	HepG2	liver:	n/a	n/a
42	BHLHE40	chr4:668905-669244	HepG2	liver:	n/a	n/a
43	BHLHE40	chr4:667925-668454	GM12878	blood:	n/a	chr4:668220-668229 chr4:668214-668235 chr4:668218-668231 chr4:668220-668229 chr4:668219-668228
44	BHLHE40	chr4:677733-678055	K562	blood:	n/a	n/a
45	BRCA1	chr4:668036-668366	GM12878	blood:	n/a	n/a
46	BRCA1	chr4:669929-670601	GM12878	blood:	n/a	n/a
47	BRCA1	chr4:668024-668401	HepG2	liver:	n/a	n/a
48	BRCA1	chr4:680985-681321	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr4:668033-668312	H1-hESC	embryonic stem cell:	n/a	n/a
50	BRCA1	chr4:675765-675805	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:668354-668404	T-47D	breast:	n/a
2	chr4:675936-675986	HCPEpiC	choroid plexus:	n/a
3	chr4:668354-668404	ECC-1	luminal epithelium:	n/a
4	chr4:679751-679801	HEEpiC	esophagus:	n/a
5	chr4:671851-671901	GM06990	blood:	n/a
6	chr4:670694-670744	NHBE	bronchial:	n/a
7	chr4:668354-668404	T-47D	breast:	n/a
8	chr4:675936-675986	HCPEpiC	choroid plexus:	n/a
9	chr4:668354-668404	ECC-1	luminal epithelium:	n/a
10	chr4:679751-679801	HEEpiC	esophagus:	n/a
11	chr4:671851-671901	GM06990	blood:	n/a
12	chr4:670694-670744	NHBE	bronchial:	n/a
13	chr4:670347-670397	U87	brain:	n/a
14	chr4:678615-678665	K562	blood:	n/a
15	chr4:668276-668326	HCPEpiC	choroid plexus:	n/a
16	chr4:670347-670397	HRPEpiC	eye:	n/a
17	chr4:668293-668343	AG04450	lung:	fetal
18	chr4:668052-668102	HCM	heart:	n/a
19	chr4:679526-679576	GM12892	blood:	n/a
20	chr4:668309-668359	H1-hESC	embryonic stem cell:	embryo
21	chr4:675936-675986	Jurkat	blood:	n/a
22	chr4:668309-668359	HCT-116	colon:	n/a
23	chr4:681086-681136	NB4	blood:	n/a
24	chr4:668293-668343	HCPEpiC	choroid plexus:	n/a
25	chr4:679907-679957	GM06990	blood:	n/a
26	chr4:675936-675986	HMEC	breast:	n/a
27	chr4:681440-681490	HRCEpiC	kidney:	n/a
28	chr4:680234-680284	BJ	skin:	n/a
29	chr4:680338-680388	HPAEpiC	pulmonary alveolar:	n/a
30	chr4:673816-673866	SK-N-SH	brain:	n/a
31	chr4:682184-682234	HMEC	breast:	n/a
32	chr4:668144-668194	NHBE	bronchial:	n/a
33	chr4:681509-681559	LNCaP	prostate:	n/a
34	chr4:671543-671593	SAEC	small airway:	n/a
35	chr4:671550-671600	AG10803	skin:	n/a
36	chr4:681086-681136	HNPCEpiC	eye:	n/a
37	chr4:674590-674640	Caco-2	colon:	n/a
38	chr4:675827-675877	GM12892	blood:	n/a
39	chr4:679751-679801	K562	blood:	n/a
40	chr4:681280-681330	AG04449	skin:	fetal
41	chr4:668057-668107	BE2_C	brain:	n/a
42	chr4:671851-671901	H1-hESC	embryonic stem cell:	embryo
43	chr4:681440-681490	U87	brain:	n/a
44	chr4:675936-675986	MCF10A-Er-Src	breast:	n/a
45	chr4:668623-668673	HL-60	blood:	n/a
46	chr4:679526-679576	MCF10A-Er-Src	breast:	n/a
47	chr4:668293-668343	ProgFib	skin:	n/a
48	chr4:681509-681559	HAEpiC	amniotic membrane:	n/a
49	chr4:668623-668673	SK-N-SH	brain:	n/a
50	chr4:668052-668102	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:679737..681440-chr4:774148..776582,2	K562	blood:
2	chr4:669988..672792-chr4:681146..683044,2	K562	blood:
3	chr4:676118..678375-chr4:722491..724316,2	K562	blood:
4	chr16:25078320..25078827-chr4:681161..681687,2	NB4	blood:
5	chr4:674880..677107-chr4:756612..759495,2	MCF-7	breast:
6	chr4:491399..494814-chr4:670516..673656,5	K562	blood:
7	chr4:675536..678279-chr4:719522..721602,2	K562	blood:
8	chr4:514891..517080-chr4:677730..679355,2	MCF-7	breast:
9	chr4:675173..676793-chr4:777348..779688,2	MCF-7	breast:
10	chr4:675556..677159-chr4:698083..699991,3	K562	blood:
11	chr4:646528..649301-chr4:675021..676814,2	MCF-7	breast:
12	chr4:680689..682702-chr4:985061..987897,2	K562	blood:
13	chr4:658187..662144-chr4:672176..676426,5	MCF-7	breast:
14	chr4:677478..678415-chr4:694566..695363,2	MCF-7	breast:
15	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
16	chr4:666044..670200-chr4:772961..777371,6	K562	blood:
17	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
18	chr17:62831703..62834529-chr4:666982..669061,2	MCF-7	breast:
19	chr4:668037..669791-chr4:1002295..1005526,3	MCF-7	breast:
20	chr4:671080..676330-chr4:771868..776883,7	K562	blood:
21	chr4:675712..677367-chr4:684331..686436,2	MCF-7	breast:
22	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
23	chr4:665677..668201-chr4:979135..981223,2	K562	blood:
24	chr4:681383..683193-chr4:698223..700658,3	K562	blood:
25	chr4:679478..681319-chr4:699446..701129,2	K562	blood:
26	chr4:680186..682717-chr4:773971..775707,2	MCF-7	breast:
27	chr4:675798..677554-chr4:822582..825253,2	K562	blood:
28	chr4:493062..494777-chr4:668037..670861,2	MCF-7	breast:
29	chr4:678244..681266-chr4:735203..738855,3	MCF-7	breast:
30	chr17:73127806..73128347-chr4:667792..668393,2	Hela-S3	cervix:
31	chr4:666011..668174-chr4:698640..701171,3	K562	blood:
32	chr4:665676..669905-chr4:679525..682855,5	K562	blood:
33	chr4:669988..672792-chr4:681146..683044,2	K562	blood:
34	chr4:681693..683683-chr4:698278..699853,2	K562	blood:
35	chr4:665676..669905-chr4:679525..682855,5	K562	blood:
36	chr4:676665..678660-chr4:1340906..1343880,2	MCF-7	breast:
37	chr4:665710..668196-chr4:979815..981337,2	MCF-7	breast:
38	chr4:679728..681770-chr4:1339441..1342302,2	K562	blood:
39	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
40	chr4:667692..669687-chr4:985576..987160,2	K562	blood:
41	chr4:596138..597128-chr4:673282..674051,3	MCF-7	breast:
42	chr4:668293..670393-chr4:1005599..1007949,2	K562	blood:
43	chr4:680242..683670-chr4:697022..701034,8	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE6B-2	chr4:668331-668472	NONHSAT094600
2	lnc-PDE6B-2	chr4:668129-671710	NONHSAT094599
3	lnc-PDE6B-2	chr4:669862-670270	NONHSAT094600
4	lnc-ATP5I-3	chr4:675619-676147	NONHSAT094601

Variant related genes	Relation type
MYL5	TF binding region
MFSD7	TF binding region
ATP5I	TF binding region
MYL5	CpG island
MFSD7	CpG island
ATP5I	CpG island
ENSG00000215375	chromatin interactions
ENSG00000169020	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000174227	chromatin interactions
ENSG00000145217	chromatin interactions
ENSG00000233799	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000125458	chromatin interactions
ENSG00000182903	chromatin interactions
ENSG00000169026	chromatin interactions
ENSG00000242686	chromatin interactions
ENSG00000214176	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000185619	chromatin interactions
ENSG00000133256	chromatin interactions
ENSG00000145214	chromatin interactions
ENSG00000127418	chromatin interactions

Extended variants
information (count: 903 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:903 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112442911	chr4:668000-668001	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs76028807	chr4:668009-668010	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs143075692	chr4:668015-668016	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs200242644	chr4:668017-668018	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs191123841	chr4:668031-668032	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs532216753	chr4:668042-668043	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs560939418	chr4:668045-668046	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs368066655	chr4:668046-668047	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs371919160	chr4:668063-668064	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs528430262	chr4:668075-668076	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs372463221	chr4:668077-668078	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs201718875	chr4:668082-668083	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs565012122	chr4:668089-668090	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs377005356	chr4:668090-668091	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs550487746	chr4:668091-668092	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs371606216	chr4:668097-668098	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs569060471	chr4:668108-668109	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs536153245	chr4:668144-668145	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs528338729	chr4:668153-668154	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
20	rs548542592	chr4:668154-668155	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs117956862	chr4:668162-668163	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs373680707	chr4:668255-668256	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
23	rs535207750	chr4:668276-668277	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
24	rs558605820	chr4:668277-668278	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
25	rs576827308	chr4:668325-668326	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
26	rs28540058	chr4:668339-668340	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs151112566	chr4:668348-668349	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
28	rs113529517	chr4:668353-668354	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	mRNA abundance
29	rs71602500	chr4:668366-668367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561202403	chr4:668381-668382	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
31	rs573223122	chr4:668387-668388	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
32	rs575675870	chr4:668465-668466	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
33	rs540202032	chr4:668505-668506	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
34	rs564972777	chr4:668533-668534	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
35	rs532477030	chr4:668540-668541	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs551101482	chr4:668543-668544	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
37	rs562532368	chr4:668548-668549	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
38	rs7671294	chr4:668567-668568	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548405674	chr4:668572-668573	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
40	rs566742630	chr4:668589-668590	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
41	rs534092242	chr4:668632-668633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs111286981	chr4:668653-668654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
43	rs552184828	chr4:668769-668770	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
44	rs570476838	chr4:668826-668827	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
45	rs182884148	chr4:668834-668835	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
46	rs187521030	chr4:668923-668924	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
47	rs7439261	chr4:668942-668943	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
48	rs568068717	chr4:668982-668983	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs536421473	chr4:669001-669002	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
50	rs554758654	chr4:669010-669011	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:666800-668800	Active TSS	GM12878-XiMat	blood
2	chr4:667000-668800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr4:667000-668800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:667000-669200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:667000-669200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:667000-669600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:667200-668000	Active TSS	Right Atrium	heart
8	chr4:667200-668800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:667200-669000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:667200-669000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:667200-669200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:667200-669200	Active TSS	NHLF	lung
13	chr4:667400-668400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:667400-668600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:667400-668600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:667400-668600	Active TSS	Fetal Intestine Small	intestine
17	chr4:667400-668800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:667400-668800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:667400-668800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:667400-668800	Active TSS	Muscle Satellite Cultured Cells	--
21	chr4:667400-668800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:667400-668800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:667400-668800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:667400-668800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:667400-668800	Active TSS	Esophagus	oesophagus
26	chr4:667400-668800	Active TSS	Fetal Brain Female	brain
27	chr4:667400-668800	Active TSS	Fetal Intestine Large	intestine
28	chr4:667400-668800	Active TSS	HMEC	breast
29	chr4:667400-668800	Active TSS	Osteobl	bone
30	chr4:667400-669000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:667400-669000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:667400-669000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:667400-669000	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr4:667400-669000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:667400-669000	Active TSS	Fetal Kidney	kidney
36	chr4:667400-669000	Active TSS	Small Intestine	intestine
37	chr4:667400-669000	Active TSS	HSMM	muscle
38	chr4:667400-669000	Active TSS	K562	blood
39	chr4:667400-669000	Active TSS	NHEK	skin
40	chr4:667400-669200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr4:667400-669200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr4:667400-669200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr4:667400-669200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr4:667400-669200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:667400-669200	Active TSS	A549	lung
46	chr4:667400-669200	Active TSS	HepG2	liver
47	chr4:667400-669200	Active TSS	HSMMtube	muscle
48	chr4:667400-669200	Active TSS	NHDF-Ad	bronchial
49	chr4:667400-669400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr4:667400-669400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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