Variant report

Variant	nsv823682
Chromosome Location	chr6:43737985-43739013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:574)
CpG islands
(count:244)
Chromatin interactive
region (count:48)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:43737833-43738353	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:43737902-43738200	K562	blood:	n/a	n/a
3	ATF2	chr6:43738956-43739263	GM12878	blood:	n/a	n/a
4	ATF2	chr6:43737800-43738108	GM12878	blood:	n/a	n/a
5	BACH1	chr6:43738110-43738310	K562	blood:	n/a	n/a
6	BACH1	chr6:43738639-43739579	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr6:43737711-43738069	GM12878	blood:	n/a	chr6:43737768-43737781
8	BCLAF1	chr6:43737624-43738156	GM12878	blood:	n/a	chr6:43737768-43737781
9	BCLAF1	chr6:43738933-43739405	GM12878	blood:	n/a	chr6:43739065-43739078 chr6:43739068-43739081
10	BCLAF1	chr6:43738791-43739513	GM12878	blood:	n/a	chr6:43739065-43739078 chr6:43739068-43739081
11	BHLHE40	chr6:43737221-43738474	GM12878	blood:	n/a	n/a
12	BHLHE40	chr6:43737243-43738554	K562	blood:	n/a	n/a
13	BHLHE40	chr6:43737191-43738025	HepG2	liver:	n/a	n/a
14	BRCA1	chr6:43737833-43738032	HepG2	liver:	n/a	n/a
15	BRCA1	chr6:43737255-43738666	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr6:43737121-43738574	K562	blood:	n/a	n/a
17	CCNT2	chr6:43737252-43740242	K562	blood:	n/a	chr6:43739202-43739211 chr6:43739796-43739805 chr6:43737306-43737315
18	CEBPB	chr6:43737878-43738324	K562	blood:	n/a	n/a
19	CEBPD	chr6:43737601-43738276	K562	blood:	n/a	n/a
20	CEBPD	chr6:43737129-43738242	HepG2	liver:	n/a	n/a
21	CEBPD	chr6:43737617-43738153	HepG2	liver:	n/a	n/a
22	CHD1	chr6:43736165-43753887	IMR90	lung:	n/a	chr6:43739796-43739806 chr6:43739318-43739328
23	CHD1	chr6:43737970-43738456	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr6:43738785-43739452	H1-hESC	embryonic stem cell:	n/a	chr6:43739318-43739328
25	CHD1	chr6:43737247-43740250	GM12878	blood:	n/a	chr6:43739796-43739806 chr6:43739318-43739328
26	CHD2	chr6:43738976-43739955	GM12878	blood:	n/a	chr6:43739796-43739806 chr6:43739318-43739328
27	CHD2	chr6:43737189-43738888	K562	blood:	n/a	n/a
28	CHD2	chr6:43737257-43738362	HepG2	liver:	n/a	n/a
29	CHD2	chr6:43737238-43738712	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr6:43738948-43739981	Hela-S3	cervix:	n/a	chr6:43739796-43739806 chr6:43739318-43739328
31	CHD2	chr6:43737163-43738037	GM12878	blood:	n/a	n/a
32	CHD2	chr6:43738322-43738459	GM12878	blood:	n/a	n/a
33	CHD2	chr6:43738274-43738830	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr6:43737192-43738102	A549	lung:	n/a	n/a
35	CREB1	chr6:43738922-43739468	A549	lung:	n/a	n/a
36	CREB1	chr6:43738222-43738569	A549	lung:	n/a	n/a
37	CREB1	chr6:43736573-43741811	HepG2	liver:	n/a	n/a
38	CTBP2	chr6:43738318-43739513	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTBP2	chr6:43737250-43738028	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr6:43738700-43738850	GM12875	blood:	n/a	n/a
41	CTCF	chr6:43738960-43739110	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr6:43737880-43738030	GM12869	blood:	n/a	n/a
43	CTCF	chr6:43739000-43739150	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr6:43738960-43739110	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr6:43738960-43739110	GM12864	blood:	n/a	n/a
46	CTCF	chr6:43738980-43739130	GM12868	blood:	n/a	n/a
47	CTCF	chr6:43739000-43739150	GM12865	blood:	n/a	n/a
48	CTCF	chr6:43736867-43737986	HCT-116	colon:	n/a	chr6:43737364-43737382 chr6:43737365-43737381 chr6:43737366-43737387 chr6:43737369-43737379
49	CTCF	chr6:43738060-43738210	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr6:43738980-43739130	WERI-Rb-1	eye:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:43738006-43738056	GM12891	blood:	n/a
2	chr6:43738440-43738490	ProgFib	skin:	n/a
3	chr6:43738440-43738490	HNPCEpiC	eye:	n/a
4	chr6:43738440-43738490	SK-N-SH_RA	brain:	n/a
5	chr6:43738977-43739027	ECC-1	luminal epithelium:	n/a
6	chr6:43738977-43739027	GM12892	blood:	n/a
7	chr6:43738440-43738490	NH-A	brain:	n/a
8	chr6:43738440-43738490	GM12891	blood:	n/a
9	chr6:43738440-43738490	HCT-116	colon:	n/a
10	chr6:43738026-43738076	MCF-7	breast:	n/a
11	chr6:43738977-43739027	HNPCEpiC	eye:	n/a
12	chr6:43738026-43738076	NHDF-neo	bronchial:	n/a
13	chr6:43738006-43738056	U87	brain:	n/a
14	chr6:43738977-43739027	MCF-7	breast:	n/a
15	chr6:43738977-43739027	HEEpiC	esophagus:	n/a
16	chr6:43738977-43739027	HIPEpiC	eye:	n/a
17	chr6:43738006-43738056	K562	blood:	n/a
18	chr6:43738006-43738056	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:43738440-43738490	HCF	heart:	n/a
20	chr6:43738440-43738490	NB4	blood:	n/a
21	chr6:43738440-43738490	AG10803	skin:	n/a
22	chr6:43738440-43738490	Hela-S3	cervix:	n/a
23	chr6:43738006-43738056	AG10803	skin:	n/a
24	chr6:43738026-43738076	AG09309	skin:	n/a
25	chr6:43738006-43738056	NHDF-neo	bronchial:	n/a
26	chr6:43738977-43739027	PANC-1	pancreas:	n/a
27	chr6:43738006-43738056	HCF	heart:	n/a
28	chr6:43738026-43738076	T-47D	breast:	n/a
29	chr6:43738026-43738076	GM12891	blood:	n/a
30	chr6:43738977-43739027	HCT-116	colon:	n/a
31	chr6:43738977-43739027	HCPEpiC	choroid plexus:	n/a
32	chr6:43738440-43738490	PrEC	prostate:	n/a
33	chr6:43738006-43738056	SK-N-SH	brain:	n/a
34	chr6:43738006-43738056	HCPEpiC	choroid plexus:	n/a
35	chr6:43738026-43738076	PANC-1	pancreas:	n/a
36	chr6:43738977-43739027	NB4	blood:	n/a
37	chr6:43738006-43738056	HMEC	breast:	n/a
38	chr6:43738026-43738076	HCF	heart:	n/a
39	chr6:43738977-43739027	SK-N-SH_RA	brain:	n/a
40	chr6:43738026-43738076	HCM	heart:	n/a
41	chr6:43738440-43738490	ECC-1	luminal epithelium:	n/a
42	chr6:43738006-43738056	PrEC	prostate:	n/a
43	chr6:43738440-43738490	PFSK-1	brain:	n/a
44	chr6:43738026-43738076	Caco-2	colon:	n/a
45	chr6:43738440-43738490	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:43738977-43739027	AG09319	gingival:	n/a
47	chr6:43738006-43738056	Caco-2	colon:	n/a
48	chr6:43738026-43738076	Hela-S3	cervix:	n/a
49	chr6:43738440-43738490	AG09309	skin:	n/a
50	chr6:43738026-43738076	H1-hESC	embryonic stem cell:	embryo

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62432613..62433305-chr6:43738242..43738785,2	MCF-7	breast:
2	chr6:43594889..43598378-chr6:43738091..43741681,4	MCF-7	breast:
3	chr16:18812450..18813102-chr6:43737686..43738315,2	Hela-S3	cervix:
4	chr3:48481366..48482090-chr6:43738300..43738891,2	Hela-S3	cervix:
5	chr6:43736441..43745894-chr6:44037513..44049664,39	K562	blood:
6	chr12:120729544..120730197-chr6:43737793..43738450,2	Hela-S3	cervix:
7	chr6:13614758..13615482-chr6:43737724..43738442,2	Hela-S3	cervix:
8	chr6:27859614..27862396-chr6:43737260..43739331,2	K562	blood:
9	chr6:12008600..12009379-chr6:43737966..43738894,2	Hela-S3	cervix:
10	chr3:145878063..145880102-chr6:43735669..43738313,2	MCF-7	breast:
11	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
12	chr6:43738413..43741235-chr6:43967741..43970239,4	K562	blood:
13	chr1:45186107..45187653-chr6:43737914..43739450,2	MCF-7	breast:
14	chr10:98346732..98347248-chr6:43737424..43738013,2	NB4	blood:
15	chr6:43592224..43600252-chr6:43737312..43744228,11	MCF-7	breast:
16	chr2:61404158..61404719-chr6:43737508..43738351,2	Hela-S3	cervix:
17	chr10:100206389..100207117-chr6:43737622..43738152,2	Hela-S3	cervix:
18	chr20:60962198..60962719-chr6:43737546..43738450,2	NB4	blood:
19	chr6:43737638..43739422-chr7:75987482..75989449,2	MCF-7	breast:
20	chr12:118454191..118455028-chr6:43737829..43738504,2	Hela-S3	cervix:
21	chr15:73075937..73076628-chr6:43738451..43738969,2	Hela-S3	cervix:
22	chr6:43737972..43738858-chr7:27779375..27780262,2	Hela-S3	cervix:
23	chr6:43737463..43739501-chr6:43819838..43821397,2	K562	blood:
24	chr6:43655438..43657239-chr6:43736539..43739702,4	K562	blood:
25	chr6:43595036..43601855-chr6:43735920..43743852,18	K562	blood:
26	chr6:43737558..43739220-chr6:43817395..43820226,2	MCF-7	breast:
27	chr12:52446283..52447249-chr6:43738297..43739035,2	Hela-S3	cervix:
28	chr17:8339204..8340094-chr6:43737384..43738276,2	Hela-S3	cervix:
29	chr6:43737968..43738716-chr6:88411322..88411973,2	Hela-S3	cervix:
30	chr6:43700705..43714068-chr6:43733889..43742277,18	K562	blood:
31	chr6:43601913..43603816-chr6:43737838..43740214,2	K562	blood:
32	chr6:43736197..43742093-chr6:44038080..44048969,27	MCF-7	breast:
33	chr4:79696772..79697553-chr6:43737917..43738589,2	Hela-S3	cervix:
34	chr6:43737532..43738100-chr9:139622184..139623080,2	HCT-116	colon:
35	chr6:43540602..43545091-chr6:43737636..43739851,4	MCF-7	breast:
36	chr6:43704424..43706395-chr6:43735880..43738328,3	K562	blood:
37	chr6:43738064..43739006-chr8:80942016..80942619,2	Hela-S3	cervix:
38	chr6:43738039..43738759-chr8:145641815..145642530,2	Hela-S3	cervix:
39	chr6:43736340..43742918-chr6:44039360..44044949,13	MCF-7	breast:
40	chr2:101618126..101619019-chr6:43737435..43738432,2	Hela-S3	cervix:
41	chr3:49066382..49067198-chr6:43737788..43738490,2	HCT-116	colon:
42	chr6:43738049..43742352-chr6:44213795..44216744,7	K562	blood:
43	chr6:26033420..26034983-chr6:43738377..43740879,2	MCF-7	breast:
44	chr6:43594866..43599640-chr6:43736940..43745540,22	K562	blood:
45	chr5:32174331..32175012-chr6:43738085..43738944,2	Hela-S3	cervix:
46	chr6:43601913..43606591-chr6:43738622..43741795,4	K562	blood:
47	chr6:43737454..43738227-chrX:146992914..146993449,2	HCT-116	colon:
48	chr6:43654019..43657239-chr6:43735769..43739176,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSPH9-3	chr6:43737962-43738756	NONHSAT112918

No data

Variant related genes	Relation type
ENSG00000272114	TF binding region
VEGFA	TF binding region
ENSG00000272114	CpG island
VEGFA	CpG island
ENSG00000181577	chromatin interactions
ENSG00000107521	chromatin interactions
ENSG00000111445	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000272434	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000095951	chromatin interactions
ENSG00000071082	chromatin interactions
ENSG00000159322	chromatin interactions
ENSG00000261071	chromatin interactions
ENSG00000077147	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000237686	chromatin interactions
ENSG00000229893	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000272086	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000147586	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000147804	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000170027	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000152952	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000106052	chromatin interactions
ENSG00000236961	chromatin interactions
ENSG00000135334	chromatin interactions
ENSG00000223469	chromatin interactions
ENSG00000232112	chromatin interactions
ENSG00000164051	chromatin interactions
ENSG00000124688	chromatin interactions
ENSG00000124571	chromatin interactions
ENSG00000138756	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000170734	chromatin interactions
ENSG00000113384	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000172432	chromatin interactions
ENSG00000096080	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000223947	chromatin interactions
ENSG00000268066	chromatin interactions
ENSG00000231881	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552245204	chr6:43738038-43738039	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
2	rs570659948	chr6:43738051-43738052	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
3	rs538029256	chr6:43738066-43738067	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
4	rs550145048	chr6:43738068-43738069	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	Overlapped CNVs	n/a
5	rs568655808	chr6:43738097-43738098	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
6	rs535725989	chr6:43738114-43738115	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
7	rs528641022	chr6:43738128-43738129	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
8	rs554454269	chr6:43738137-43738138	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
9	rs572864799	chr6:43738230-43738231	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
10	rs533815997	chr6:43738255-43738256	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
11	rs558662918	chr6:43738256-43738257	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
12	rs2010963	chr6:43738350-43738351	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	42 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6928818	chr6:43738374-43738375	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
14	rs370995111	chr6:43738419-43738420	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	44 gene(s)	Overlapped CNVs	n/a
15	rs556055999	chr6:43738422-43738423	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	44 gene(s)	Overlapped CNVs	n/a
16	rs201786558	chr6:43738526-43738527	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
17	rs574579489	chr6:43738577-43738578	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
18	rs541717889	chr6:43738625-43738626	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
19	rs201321489	chr6:43738653-43738654	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
20	rs527676993	chr6:43738668-43738669	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
21	rs369902034	chr6:43738671-43738672	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
22	rs368064502	chr6:43738673-43738674	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
23	rs564227580	chr6:43738674-43738675	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region lncRNA	35 gene(s)	Overlapped CNVs	n/a
24	rs531663653	chr6:43738920-43738921	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
25	rs372731987	chr6:43738937-43738938	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
26	rs568518122	chr6:43738962-43738963	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
27	rs370465512	chr6:43738965-43738966	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
28	rs374451231	chr6:43738970-43738971	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
29	rs25648	chr6:43738977-43738978	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs199971699	chr6:43738978-43738979	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs566401743	chr6:43738983-43738984	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	21569311	CNVD
Cancer	20164920	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43737000-43738000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr6:43737200-43738200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:43737200-43738600	Active TSS	Brain Germinal Matrix	brain
4	chr6:43737200-43739800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:43737200-43739800	Active TSS	Brain Angular Gyrus	brain
6	chr6:43737200-43740000	Active TSS	Rectal Smooth Muscle	rectum
7	chr6:43737200-43740400	Active TSS	Placenta Amnion	Placenta Amnion
8	chr6:43737200-43741000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:43737200-43741400	Active TSS	Brain Anterior Caudate	brain
10	chr6:43737200-43742000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:43737400-43738000	Active TSS	Primary T cells from cord blood	blood
12	chr6:43737400-43738000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:43737400-43738000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:43737400-43738000	Transcr. at gene 5' and 3'	Right Atrium	heart
15	chr6:43737400-43738000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:43737400-43738200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr6:43737400-43738200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr6:43737400-43738200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:43737400-43738200	Active TSS	Fetal Stomach	stomach
20	chr6:43737400-43738400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr6:43737400-43738400	Flanking Active TSS	Placenta	Placenta
22	chr6:43737400-43738400	Flanking Active TSS	HUVEC	blood vessel
23	chr6:43737400-43738600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:43737400-43738600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:43737400-43738800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr6:43737400-43738800	Active TSS	Brain Hippocampus Middle	brain
27	chr6:43737400-43738800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr6:43737400-43739000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:43737400-43739000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:43737400-43739600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr6:43737400-43739600	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr6:43737400-43739800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:43737400-43739800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:43737400-43739800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr6:43737400-43739800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr6:43737400-43739800	Active TSS	Colon Smooth Muscle	Colon
37	chr6:43737400-43739800	Active TSS	Fetal Brain Female	brain
38	chr6:43737400-43739800	Active TSS	Lung	lung
39	chr6:43737400-43739800	Active TSS	Spleen	Spleen
40	chr6:43737400-43740000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
41	chr6:43737400-43740000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:43737400-43740000	Active TSS	NHLF	lung
43	chr6:43737400-43740200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:43737400-43740200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:43737400-43740200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr6:43737400-43740200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:43737400-43740200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:43737400-43740200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr6:43737400-43740200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:43737400-43740200	Active TSS	Ovary	ovary

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