Variant report

Variant	esv3370799
Chromosome Location	chr6:31743973-31748071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:466)
CpG islands
(count:3298)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:31744791-31745248	K562	blood:	n/a	n/a
2	ARID3A	chr6:31744950-31745207	HepG2	liver:	n/a	n/a
3	ATF1	chr6:31744739-31745294	K562	blood:	n/a	chr6:31744920-31744934
4	ATF2	chr6:31744593-31745360	GM12878	blood:	n/a	chr6:31744920-31744934
5	ATF2	chr6:31744662-31745294	GM12878	blood:	n/a	chr6:31744920-31744934
6	ATF3	chr6:31744657-31745504	K562	blood:	n/a	n/a
7	ATF3	chr6:31744570-31745542	K562	blood:	n/a	n/a
8	BACH1	chr6:31744775-31745310	K562	blood:	n/a	chr6:31745135-31745149
9	BATF	chr6:31744874-31745274	GM12878	blood:	n/a	n/a
10	BCL11A	chr6:31744747-31745233	GM12878	blood:	n/a	n/a
11	BCL11A	chr6:31744806-31745124	GM12878	blood:	n/a	n/a
12	BCL3	chr6:31744559-31745342	A549	lung:	n/a	n/a
13	BCL3	chr6:31744638-31745342	A549	lung:	n/a	n/a
14	BCL3	chr6:31744547-31745467	K562	blood:	n/a	n/a
15	BCL3	chr6:31744523-31745345	GM12878	blood:	n/a	n/a
16	BCLAF1	chr6:31744727-31745294	GM12878	blood:	n/a	n/a
17	BCLAF1	chr6:31744638-31745283	GM12878	blood:	n/a	n/a
18	BCLAF1	chr6:31744624-31745537	K562	blood:	n/a	n/a
19	BCLAF1	chr6:31744631-31745448	K562	blood:	n/a	n/a
20	BHLHE40	chr6:31744836-31745249	GM12878	blood:	n/a	n/a
21	BHLHE40	chr6:31744706-31745227	HepG2	liver:	n/a	n/a
22	BHLHE40	chr6:31744537-31745627	K562	blood:	n/a	n/a
23	BHLHE40	chr6:31743765-31744030	HepG2	liver:	n/a	n/a
24	BRCA1	chr6:31744980-31745128	HepG2	liver:	n/a	n/a
25	BRCA1	chr6:31744767-31745359	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr6:31744203-31746270	K562	blood:	n/a	n/a
27	CBX3	chr6:31744655-31745413	K562	blood:	n/a	n/a
28	CCNT2	chr6:31744509-31745393	K562	blood:	n/a	chr6:31744819-31744828
29	CEBPB	chr6:31744698-31745355	GM12878	blood:	n/a	n/a
30	CEBPB	chr6:31744758-31745483	K562	blood:	n/a	n/a
31	CEBPB	chr6:31744906-31745115	GM12878	blood:	n/a	n/a
32	CEBPB	chr6:31744914-31745375	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr6:31745430-31745585	K562	blood:	n/a	n/a
34	CEBPB	chr6:31744809-31745176	K562	blood:	n/a	n/a
35	CEBPD	chr6:31744488-31745413	K562	blood:	n/a	n/a
36	CEBPD	chr6:31744644-31745408	HepG2	liver:	n/a	n/a
37	CHD2	chr6:31744723-31745243	HepG2	liver:	n/a	n/a
38	CHD2	chr6:31744467-31745392	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr6:31743828-31746134	K562	blood:	n/a	n/a
40	CHD2	chr6:31744738-31745219	GM12878	blood:	n/a	n/a
41	CREB1	chr6:31744487-31745354	HepG2	liver:	n/a	n/a
42	CREB1	chr6:31744433-31745520	HepG2	liver:	n/a	n/a
43	CREB1	chr6:31744494-31745318	GM12878	blood:	n/a	n/a
44	CREB1	chr6:31744727-31745266	A549	lung:	n/a	n/a
45	CREB1	chr6:31744702-31745220	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr6:31745160-31745310	A549	lung:	n/a	n/a
47	CTCF	chr6:31745300-31745450	GM12864	blood:	n/a	n/a
48	CTCF	chr6:31745220-31745370	NHEK	skin:	n/a	n/a
49	CTCF	chr6:31745180-31745330	HepG2	liver:	n/a	n/a
50	CTCF	chr6:31745060-31745210	WERI-Rb-1	eye:	n/a	n/a

(count:3298 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31743928-31743978	GM12892	blood:	n/a
2	chr6:31744033-31744083	HRCEpiC	kidney:	n/a
3	chr6:31744037-31744087	Hela-S3	cervix:	n/a
4	chr6:31747026-31747076	NHBE	bronchial:	n/a
5	chr6:31743928-31743978	GM12892	blood:	n/a
6	chr6:31744033-31744083	HRCEpiC	kidney:	n/a
7	chr6:31744037-31744087	Hela-S3	cervix:	n/a
8	chr6:31747026-31747076	NHBE	bronchial:	n/a
9	chr6:31747433-31747483	HL-60	blood:	n/a
10	chr6:31747255-31747305	SK-N-SH	brain:	n/a
11	chr6:31744339-31744389	ECC-1	luminal epithelium:	n/a
12	chr6:31747887-31747937	A549	lung:	n/a
13	chr6:31744339-31744389	GM12878	blood:	n/a
14	chr6:31746808-31746858	U87	brain:	n/a
15	chr6:31744398-31744448	GM19239	blood:	n/a
16	chr6:31744918-31744968	NHDF-neo	bronchial:	n/a
17	chr6:31747041-31747091	HRCEpiC	kidney:	n/a
18	chr6:31744927-31744977	HNPCEpiC	eye:	n/a
19	chr6:31744398-31744448	HAEpiC	amniotic membrane:	n/a
20	chr6:31746919-31746969	ProgFib	skin:	n/a
21	chr6:31746919-31746969	HCM	heart:	n/a
22	chr6:31747023-31747073	PFSK-1	brain:	n/a
23	chr6:31744398-31744448	HCM	heart:	n/a
24	chr6:31744040-31744090	GM12891	blood:	n/a
25	chr6:31746874-31746924	ECC-1	luminal epithelium:	n/a
26	chr6:31747053-31747103	MCF-7	breast:	n/a
27	chr6:31746114-31746164	HepG2	liver:	n/a
28	chr6:31744918-31744968	NT2-D1	testis:	n/a
29	chr6:31744628-31744678	AG09319	gingival:	n/a
30	chr6:31744524-31744574	Jurkat	blood:	n/a
31	chr6:31747269-31747319	HCM	heart:	n/a
32	chr6:31747023-31747073	HRPEpiC	eye:	n/a
33	chr6:31744398-31744448	Hepatocyte	liver:	n/a
34	chr6:31746919-31746969	GM19239	blood:	n/a
35	chr6:31745821-31745871	AoSMC	blood vessel:	n/a
36	chr6:31744628-31744678	AG10803	skin:	n/a
37	chr6:31744524-31744574	PANC-1	pancreas:	n/a
38	chr6:31747041-31747091	HRPEpiC	eye:	n/a
39	chr6:31743928-31743978	HRE	kidney:	n/a
40	chr6:31746795-31746845	AoSMC	blood vessel:	n/a
41	chr6:31746114-31746164	Caco-2	colon:	n/a
42	chr6:31747232-31747282	HepG2	liver:	n/a
43	chr6:31747255-31747305	HUVEC	blood vessel:	n/a
44	chr6:31744636-31744686	NT2-D1	testis:	n/a
45	chr6:31747053-31747103	A549	lung:	n/a
46	chr6:31746847-31746897	GM12878	blood:	n/a
47	chr6:31747237-31747287	AG04449	skin:	fetal
48	chr6:31744816-31744866	RPTEC	kidney:	n/a
49	chr6:31746941-31746991	AG04449	skin:	fetal
50	chr6:31747237-31747287	AG09319	gingival:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31743287..31747076-chr6:31793437..31796925,5	MCF-7	breast:
2	chr6:31701475..31705916-chr6:31741171..31744372,4	MCF-7	breast:
3	chr6:31668602..31672513-chr6:31741310..31744822,4	MCF-7	breast:
4	chr6:31742931..31744824-chr6:31926408..31928564,2	K562	blood:
5	chr6:31743176..31746587-chr6:31939802..31942689,4	K562	blood:
6	chr6:31508667..31511581-chr6:31742885..31745171,3	MCF-7	breast:
7	chr6:31742934..31744615-chr6:31773250..31774889,2	MCF-7	breast:
8	chr6:31745070..31746845-chr6:31830028..31832915,2	MCF-7	breast:
9	chr6:31743107..31747994-chr6:31781956..31785553,7	MCF-7	breast:
10	chr6:31737503..31739335-chr6:31742183..31744187,2	MCF-7	breast:
11	chr6:31696116..31699055-chr6:31743914..31747307,3	MCF-7	breast:
12	chr6:31508578..31511041-chr6:31743489..31745514,2	K562	blood:
13	chr6:31745758..31747408-chr6:31800818..31802986,2	MCF-7	breast:
14	chr6:31742555..31745004-chr6:31773789..31777145,5	MCF-7	breast:
15	chr6:31742944..31744994-chr6:31869511..31871431,2	K562	blood:
16	chr6:31737226..31750413-chr6:31786206..31805473,50	MCF-7	breast:
17	chr6:31739355..31742514-chr6:31742775..31744985,3	MCF-7	breast:
18	chr11:64545106..64547042-chr6:31742109..31744042,2	MCF-7	breast:
19	chr6:31732922..31735851-chr6:31748037..31750099,2	MCF-7	breast:
20	chr6:31502088..31504001-chr6:31743213..31745224,2	MCF-7	breast:
21	chr6:31632664..31635327-chr6:31741807..31745187,4	MCF-7	breast:
22	chr6:31743326..31746438-chr6:31828635..31833007,4	K562	blood:
23	chr6:31697592..31699245-chr6:31742808..31745377,2	MCF-7	breast:
24	chr6:31735011..31745595-chr6:31798203..31806127,22	MCF-7	breast:
25	chr6:31710678..31714958-chr6:31739473..31744061,4	MCF-7	breast:
26	chr6:31507944..31511146-chr6:31743964..31746169,3	K562	blood:
27	chr6:31741149..31744902-chr6:31760858..31763694,5	MCF-7	breast:
28	chr6:31642643..31644341-chr6:31742570..31744549,2	MCF-7	breast:
29	chr6:31747450..31751295-chr6:31800640..31804723,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201555	TF binding region
VWA7	TF binding region
VARS	TF binding region
ENSG00000201555	CpG island
VWA7	CpG island
VARS	CpG island
ENSG00000204388	chromatin interactions
ENSG00000204366	chromatin interactions
ENSG00000263020	chromatin interactions
ENSG00000213719	chromatin interactions
ENSG00000234006	chromatin interactions
ENSG00000201754	chromatin interactions
ENSG00000204410	chromatin interactions
ENSG00000204348	chromatin interactions
ENSG00000269038	chromatin interactions
ENSG00000213722	chromatin interactions
ENSG00000204435	chromatin interactions
ENSG00000204387	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000204386	chromatin interactions
ENSG00000204438	chromatin interactions
ENSG00000204344	chromatin interactions
ENSG00000204427	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000204394	chromatin interactions
ENSG00000204356	chromatin interactions
ENSG00000198563	chromatin interactions
ENSG00000235663	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000204385	chromatin interactions
ENSG00000204351	chromatin interactions
ENSG00000266776	chromatin interactions
ENSG00000204396	chromatin interactions
ENSG00000204392	chromatin interactions
ENSG00000265236	chromatin interactions
ENSG00000201823	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs267600961	chr6:31743984-31743985	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
2	rs146648894	chr6:31744015-31744016	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
3	rs185402577	chr6:31744025-31744026	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
4	rs376676655	chr6:31744034-31744035	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
5	rs377392515	chr6:31744038-31744039	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
6	rs370423114	chr6:31744040-31744041	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
7	rs117633472	chr6:31744041-31744042	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
8	rs550866823	chr6:31744081-31744082	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
9	rs114936741	chr6:31744148-31744149	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
10	rs545086780	chr6:31744167-31744168	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
11	rs188723515	chr6:31744168-31744169	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
12	rs527654696	chr6:31744171-31744172	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
13	rs542582286	chr6:31744212-31744213	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
14	rs371665064	chr6:31744214-31744215	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
15	rs191974492	chr6:31744238-31744239	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
16	rs376092064	chr6:31744352-31744353	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
17	rs550210414	chr6:31744356-31744357	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
18	rs370142455	chr6:31744359-31744360	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
19	rs114151296	chr6:31744391-31744392	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
20	rs551481168	chr6:31744407-31744408	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
21	rs566546727	chr6:31744426-31744427	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
22	rs533891464	chr6:31744533-31744534	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
23	rs555363572	chr6:31744570-31744571	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
24	rs567156404	chr6:31744629-31744630	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
25	rs374700027	chr6:31744650-31744651	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
26	rs556223261	chr6:31744672-31744673	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
27	rs577751129	chr6:31744728-31744729	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
28	rs544830976	chr6:31744735-31744736	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
29	rs553571004	chr6:31744746-31744747	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
30	rs572173073	chr6:31744779-31744780	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
31	rs147218605	chr6:31744792-31744793	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
32	rs140756843	chr6:31744794-31744795	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
33	rs576400599	chr6:31744817-31744818	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
34	rs544078719	chr6:31744896-31744897	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
35	rs368572151	chr6:31744906-31744907	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
36	rs565469018	chr6:31744911-31744912	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
37	rs149768463	chr6:31744922-31744923	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
38	rs375469825	chr6:31744928-31744929	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
39	rs372011631	chr6:31745035-31745036	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs559999753	chr6:31745065-31745066	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs375647167	chr6:31745071-31745072	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs113040835	chr6:31745073-31745074	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs9461725	chr6:31745086-31745087	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567241664	chr6:31745095-31745096	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs537475453	chr6:31745096-31745097	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs550025534	chr6:31745137-31745138	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs148537478	chr6:31745177-31745178	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs538559942	chr6:31745181-31745182	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs142848863	chr6:31745182-31745183	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs188490154	chr6:31745183-31745184	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:131)

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
Ovarian cancer	21781307	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31716600-31744000	Weak transcription	GM12878-XiMat	blood
2	chr6:31731400-31744400	Weak transcription	Left Ventricle	heart
3	chr6:31731800-31749600	Weak transcription	HUVEC	blood vessel
4	chr6:31732600-31745000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:31732800-31744400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:31734600-31744200	Weak transcription	Brain Anterior Caudate	brain
7	chr6:31734600-31744200	Weak transcription	NH-A	brain
8	chr6:31734600-31744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:31734600-31744600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:31734600-31745200	Weak transcription	Brain Germinal Matrix	brain
11	chr6:31734600-31745400	Weak transcription	Fetal Brain Female	brain
12	chr6:31734600-31746600	Weak transcription	Brain Angular Gyrus	brain
13	chr6:31734800-31745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:31737200-31744200	Weak transcription	Fetal Stomach	stomach
15	chr6:31737400-31744400	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:31737400-31744600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:31738000-31744200	Weak transcription	Primary B cells from cord blood	blood
18	chr6:31738800-31745800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:31739800-31746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:31740200-31744800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:31740400-31744200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:31740400-31744600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:31741000-31744400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:31741000-31744400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:31741000-31744400	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:31741000-31744800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:31741000-31745600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:31741200-31744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:31741200-31744200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:31741200-31744400	Weak transcription	Fetal Thymus	thymus
31	chr6:31741200-31744800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:31741200-31744800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:31741200-31745800	Weak transcription	Brain Substantia Nigra	brain
34	chr6:31741400-31744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:31741400-31744400	Weak transcription	Primary T cells from cord blood	blood
36	chr6:31741400-31745600	Weak transcription	Dnd41	blood
37	chr6:31741800-31744400	Enhancers	K562	blood
38	chr6:31741800-31745400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:31741800-31745600	Enhancers	Placenta	Placenta
40	chr6:31742200-31744200	Enhancers	Hela-S3	cervix
41	chr6:31742400-31744000	Weak transcription	Thymus	Thymus
42	chr6:31742400-31744600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:31742600-31746000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:31742800-31744200	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:31742800-31744400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:31742800-31744400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:31742800-31744400	Enhancers	Colonic Mucosa	Colon
48	chr6:31742800-31744400	Enhancers	Fetal Intestine Large	intestine
49	chr6:31742800-31744400	Enhancers	A549	lung
50	chr6:31742800-31744800	Enhancers	Placenta Amnion	Placenta Amnion

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