Variant report

Variant	esv3409455
Chromosome Location	chr3:179040008-179042256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:857)
CpG islands
(count:733)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:179039437-179040144	K562	blood:	n/a	n/a
2	ARID3A	chr3:179040246-179040856	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:179041074-179041391	K562	blood:	n/a	n/a
4	ARID3A	chr3:179039372-179040013	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:179040525-179040842	K562	blood:	n/a	n/a
6	ATF2	chr3:179041081-179041834	GM12878	blood:	n/a	n/a
7	ATF2	chr3:179041484-179041803	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr3:179040578-179040941	K562	blood:	n/a	chr3:179040904-179040913
9	BACH1	chr3:179040124-179041238	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr3:179040548-179040847	GM12878	blood:	n/a	n/a
11	BCL3	chr3:179040308-179041220	GM12878	blood:	n/a	chr3:179041026-179041039 chr3:179040972-179040985 chr3:179041029-179041038 chr3:179040856-179040869 chr3:179040659-179040668
12	BCLAF1	chr3:179041090-179041948	GM12878	blood:	n/a	n/a
13	BCLAF1	chr3:179040423-179041793	GM12878	blood:	n/a	chr3:179041026-179041039 chr3:179040972-179040985 chr3:179041029-179041038 chr3:179040856-179040869 chr3:179040659-179040668
14	BCLAF1	chr3:179040396-179041019	GM12878	blood:	n/a	chr3:179040972-179040985 chr3:179040856-179040869 chr3:179040659-179040668
15	BCLAF1	chr3:179042180-179042614	GM12878	blood:	n/a	n/a
16	BHLHE40	chr3:179039332-179041761	K562	blood:	n/a	chr3:179040974-179040990 chr3:179041029-179041045 chr3:179041288-179041304
17	BHLHE40	chr3:179040060-179041722	GM12878	blood:	n/a	chr3:179040974-179040990 chr3:179041029-179041045 chr3:179041288-179041304
18	BHLHE40	chr3:179040201-179041505	HepG2	liver:	n/a	chr3:179040974-179040990 chr3:179041029-179041045 chr3:179041288-179041304
19	BRCA1	chr3:179040454-179041219	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr3:179040485-179041286	HepG2	liver:	n/a	n/a
21	BRCA1	chr3:179040133-179040803	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr3:179040258-179040796	GM12878	blood:	n/a	n/a
23	BRCA1	chr3:179041406-179041502	GM12878	blood:	n/a	n/a
24	BRCA1	chr3:179041190-179042713	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr3:179040168-179040963	K562	blood:	n/a	n/a
26	CBX3	chr3:179041021-179041845	K562	blood:	n/a	n/a
27	CBX3	chr3:179040510-179040860	K562	blood:	n/a	n/a
28	CCNT2	chr3:179040401-179041642	K562	blood:	n/a	chr3:179041230-179041239
29	CEBPB	chr3:179040217-179040751	MCF-7	breast:	n/a	n/a
30	CEBPB	chr3:179040373-179040715	K562	blood:	n/a	n/a
31	CEBPB	chr3:179040443-179040643	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr3:179040057-179041934	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr3:179040361-179040845	HepG2	liver:	n/a	n/a
34	CEBPB	chr3:179041274-179041620	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr3:179041265-179041365	K562	blood:	n/a	n/a
36	CEBPD	chr3:179040446-179041054	HepG2	liver:	n/a	n/a
37	CEBPD	chr3:179040623-179040911	HepG2	liver:	n/a	n/a
38	CHD1	chr3:179040415-179042257	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr3:179040036-179040038	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr3:179039333-179042772	IMR90	lung:	n/a	n/a
41	CHD1	chr3:179040419-179042491	GM12878	blood:	n/a	n/a
42	CHD2	chr3:179040429-179041691	GM12878	blood:	n/a	n/a
43	CHD2	chr3:179040141-179041790	K562	blood:	n/a	n/a
44	CHD2	chr3:179040389-179041457	HepG2	liver:	n/a	n/a
45	CHD2	chr3:179040206-179041738	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr3:179040517-179041483	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr3:179040198-179041068	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr3:179041370-179041641	A549	lung:	n/a	n/a
49	CREB1	chr3:179040436-179041003	A549	lung:	n/a	n/a
50	CREB1	chr3:179040258-179041844	GM12878	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:179041370-179041420	HPAEpiC	pulmonary alveolar:	n/a
2	chr3:179041370-179041420	HPAEpiC	pulmonary alveolar:	n/a
3	chr3:179041357-179041407	RPTEC	kidney:	n/a
4	chr3:179040469-179040519	HIPEpiC	eye:	n/a
5	chr3:179041370-179041420	HRE	kidney:	n/a
6	chr3:179041226-179041276	HRPEpiC	eye:	n/a
7	chr3:179041488-179041538	Hepatocyte	liver:	n/a
8	chr3:179041357-179041407	GM12878	blood:	n/a
9	chr3:179041374-179041424	SAEC	small airway:	n/a
10	chr3:179041374-179041424	U87	brain:	n/a
11	chr3:179041488-179041538	SAEC	small airway:	n/a
12	chr3:179040900-179040950	HL-60	blood:	n/a
13	chr3:179041374-179041424	PANC-1	pancreas:	n/a
14	chr3:179041370-179041420	SK-N-MC	brain:	n/a
15	chr3:179041226-179041276	ECC-1	luminal epithelium:	n/a
16	chr3:179041488-179041538	NB4	blood:	n/a
17	chr3:179041354-179041404	HNPCEpiC	eye:	n/a
18	chr3:179041488-179041538	HRCEpiC	kidney:	n/a
19	chr3:179041404-179041454	NH-A	brain:	n/a
20	chr3:179041494-179041544	Hepatocyte	liver:	n/a
21	chr3:179040370-179040420	U87	brain:	n/a
22	chr3:179041374-179041424	NHDF-neo	bronchial:	n/a
23	chr3:179040900-179040950	Jurkat	blood:	n/a
24	chr3:179041354-179041404	A549	lung:	n/a
25	chr3:179041370-179041420	MCF-7	breast:	n/a
26	chr3:179041404-179041454	MCF10A-Er-Src	breast:	n/a
27	chr3:179041494-179041544	NHBE	bronchial:	n/a
28	chr3:179041370-179041420	SKMC	muscle:	n/a
29	chr3:179041374-179041424	HL-60	blood:	n/a
30	chr3:179041354-179041404	HCT-116	colon:	n/a
31	chr3:179041374-179041424	HIPEpiC	eye:	n/a
32	chr3:179040469-179040519	HUVEC	blood vessel:	n/a
33	chr3:179041226-179041276	RPTEC	kidney:	n/a
34	chr3:179041494-179041544	HL-60	blood:	n/a
35	chr3:179041374-179041424	H1-hESC	embryonic stem cell:	embryo
36	chr3:179041488-179041538	HNPCEpiC	eye:	n/a
37	chr3:179041354-179041404	HAEpiC	amniotic membrane:	n/a
38	chr3:179041370-179041420	T-47D	breast:	n/a
39	chr3:179040370-179040420	Hela-S3	cervix:	n/a
40	chr3:179041494-179041544	BE2_C	brain:	n/a
41	chr3:179041226-179041276	A549	lung:	n/a
42	chr3:179040469-179040519	NHBE	bronchial:	n/a
43	chr3:179041374-179041424	GM19239	blood:	n/a
44	chr3:179041226-179041276	AG09319	gingival:	n/a
45	chr3:179041488-179041538	PrEC	prostate:	n/a
46	chr3:179041374-179041424	Hepatocyte	liver:	n/a
47	chr3:179040469-179040519	A549	lung:	n/a
48	chr3:179040370-179040420	HRE	kidney:	n/a
49	chr3:179041488-179041538	K562	blood:	n/a
50	chr3:179040370-179040420	GM12878	blood:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:179039368..179041573-chr3:179044284..179046543,4	MCF-7	breast:
2	chr3:178981462..178984906-chr3:179038055..179040041,3	K562	blood:
3	chr3:178977431..178979193-chr3:179039095..179041437,2	MCF-7	breast:
4	chr3:179031470..179034268-chr3:179038646..179040748,3	K562	blood:
5	chr3:179037868..179043452-chr3:179279283..179282534,12	K562	blood:
6	chr3:178787618..178789818-chr3:179039518..179042108,2	K562	blood:
7	chr3:178786691..178787633-chr3:179039094..179040039,2	K562	blood:
8	chr3:179038018..179040373-chr3:179321743..179323381,2	K562	blood:
9	chr3:178864492..178868931-chr3:179039553..179043493,6	MCF-7	breast:
10	chr3:179041141..179044648-chr3:179167085..179169566,4	K562	blood:
11	chr3:178977469..178980839-chr3:179038593..179042214,6	K562	blood:
12	chr17:41465703..41466585-chr3:179040734..179041243,2	NB4	blood:
13	chr3:179037735..179042391-chr3:179277921..179283824,9	MCF-7	breast:
14	chr3:179040252..179043387-chr3:179064355..179067344,4	MCF-7	breast:
15	chr3:178822631..178823378-chr3:179039145..179040192,3	MCF-7	breast:
16	chr19:12901967..12902813-chr3:179040341..179041276,2	Hela-S3	cervix:
17	chr11:61559601..61560316-chr3:179040796..179041352,2	Hela-S3	cervix:
18	chr3:179039445..179042481-chr3:179045775..179048078,4	MCF-7	breast:
19	chr3:179039352..179043378-chr3:179279283..179282999,10	K562	blood:
20	chr3:160116021..160118602-chr3:179040566..179042306,2	K562	blood:
21	chr3:178977854..178979821-chr3:179040251..179043018,2	MCF-7	breast:
22	chr3:178866029..178868505-chr3:179041655..179043720,2	K562	blood:
23	chr3:179040074..179043948-chr3:179167085..179170222,5	K562	blood:
24	chr3:179040254..179044115-chr3:179063916..179068626,6	K562	blood:
25	chr3:179039610..179042933-chr3:179054240..179057497,4	MCF-7	breast:
26	chr3:179039334..179043117-chr3:179061578..179071936,16	MCF-7	breast:
27	chr3:178978041..178980864-chr3:179039699..179042008,3	K562	blood:
28	chr3:178788412..178790187-chr3:179039067..179041157,2	MCF-7	breast:
29	chr3:179040206..179042939-chr3:179043914..179045418,3	MCF-7	breast:
30	chr3:178864924..178867052-chr3:179038904..179040552,2	MCF-7	breast:
31	chr12:7052625..7053406-chr3:179040623..179041358,2	HCT-116	colon:
32	chr3:179040175..179040953-chr3:179065036..179065918,2	MCF-7	breast:
33	chr3:178787120..178791261-chr3:179039253..179041998,3	K562	blood:
34	chr3:178865407..178867483-chr3:179039203..179041371,3	K562	blood:
35	chr3:179039914..179042763-chr3:179093091..179095772,2	K562	blood:
36	chr3:179039679..179043417-chr3:179063023..179066951,5	K562	blood:
37	chr3:179040612..179043524-chr3:179043815..179047485,6	K562	blood:
38	chr3:178864344..178867597-chr3:179039214..179042429,8	K562	blood:
39	chr3:178787982..178790546-chr3:179037129..179041546,5	MCF-7	breast:
40	chr3:178733091..178733955-chr3:179038794..179040035,7	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF639	TF binding region
ZNF639	CpG island
ENSG00000114450	chromatin interactions
ENSG00000273190	chromatin interactions
ENSG00000229102	chromatin interactions
ENSG00000121879	chromatin interactions
ENSG00000171121	chromatin interactions
ENSG00000121864	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000240429	chromatin interactions
ENSG00000136518	chromatin interactions
ENSG00000172667	chromatin interactions
ENSG00000068885	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000207601	chromatin interactions
ENSG00000113810	chromatin interactions
ENSG00000136522	chromatin interactions
ENSG00000171109	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000134825	chromatin interactions
ENSG00000239255	chromatin interactions
ENSG00000168496	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000136521	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373035375	chr3:179040065-179040066	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs545456350	chr3:179040087-179040088	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs559075461	chr3:179040099-179040100	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs377050403	chr3:179040107-179040108	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs2032700	chr3:179040177-179040178	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs544399755	chr3:179040204-179040205	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs561104963	chr3:179040307-179040308	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs377396892	chr3:179040356-179040357	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs540477373	chr3:179040376-179040377	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs201454823	chr3:179040383-179040384	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs559185318	chr3:179040407-179040408	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs560064718	chr3:179040413-179040414	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs541321569	chr3:179040451-179040452	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs371415015	chr3:179040524-179040525	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs149812336	chr3:179040527-179040528	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs184758798	chr3:179040539-179040540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs531278194	chr3:179040548-179040549	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs547988316	chr3:179040549-179040550	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs71181281	chr3:179040576-179040577	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs144797622	chr3:179040613-179040614	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs536493006	chr3:179040630-179040631	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs553619155	chr3:179040637-179040638	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs62410442	chr3:179040643-179040644	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563813788	chr3:179040649-179040650	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs62410443	chr3:179040651-179040652	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376105101	chr3:179040655-179040656	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs374184331	chr3:179040684-179040685	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs558962370	chr3:179040719-179040720	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs575726397	chr3:179040721-179040722	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs368038219	chr3:179040750-179040751	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs544654556	chr3:179040757-179040758	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs148525075	chr3:179040763-179040764	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs574575367	chr3:179040797-179040798	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
34	rs549362445	chr3:179040807-179040808	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs548167492	chr3:179040810-179040811	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
36	rs560000145	chr3:179040812-179040813	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
37	rs9876375	chr3:179040825-179040826	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
38	rs147661083	chr3:179040863-179040864	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
39	rs565896438	chr3:179040883-179040884	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
40	rs562102610	chr3:179040885-179040886	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
41	rs1362743	chr3:179040888-179040889	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548263303	chr3:179040923-179040924	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs561672296	chr3:179041045-179041046	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs142375387	chr3:179041057-179041058	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs547240650	chr3:179041067-179041068	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs567090756	chr3:179041129-179041130	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs539302717	chr3:179041219-179041220	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs570394026	chr3:179041231-179041232	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs539284846	chr3:179041237-179041238	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs569230062	chr3:179041242-179041243	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179038800-179040200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:179038800-179040400	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr3:179038800-179042200	Active TSS	NHLF	lung
4	chr3:179038800-179042800	Active TSS	Ovary	ovary
5	chr3:179039000-179040200	Enhancers	Stomach Mucosa	stomach
6	chr3:179039000-179040400	Flanking Active TSS	Osteobl	bone
7	chr3:179039000-179040600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:179039000-179040600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:179039000-179040600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr3:179039000-179042400	Active TSS	Right Atrium	heart
11	chr3:179039000-179043200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:179039200-179040200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:179039200-179040200	Enhancers	Fetal Thymus	thymus
14	chr3:179039200-179040400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:179039200-179040600	Flanking Active TSS	HUVEC	blood vessel
16	chr3:179039200-179040600	Flanking Active TSS	K562	blood
17	chr3:179039200-179040600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr3:179039200-179042600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr3:179039200-179042600	Active TSS	Colonic Mucosa	Colon
20	chr3:179039200-179042800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr3:179039400-179040200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:179039400-179040200	Active TSS	Fetal Muscle Leg	muscle
23	chr3:179039400-179040200	Enhancers	Thymus	Thymus
24	chr3:179039400-179040400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:179039400-179040400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr3:179039400-179040400	Flanking Active TSS	Liver	Liver
27	chr3:179039400-179040600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr3:179039400-179040600	Flanking Active TSS	GM12878-XiMat	blood
29	chr3:179039400-179041200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:179039600-179040200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr3:179039600-179040200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr3:179039600-179040200	Flanking Active TSS	A549	lung
33	chr3:179039600-179040200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr3:179039600-179040400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:179039600-179040400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:179039600-179040400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr3:179039600-179040400	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr3:179039600-179040400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr3:179039600-179040600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr3:179039600-179040600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:179039600-179040600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr3:179039600-179040600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr3:179039600-179040600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr3:179039600-179040600	Flanking Active TSS	HMEC	breast
45	chr3:179039600-179040600	Flanking Active TSS	NHEK	skin
46	chr3:179039600-179041800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:179039800-179040200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:179039800-179040200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
49	chr3:179039800-179040200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr3:179039800-179040200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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