Variant report

Variant	nsv523548
Chromosome Location	chr6:166796433-166819774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1148)
CpG islands
(count:2080)
Chromatin interactive
region (count:24)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1148 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:166814407-166814566	K562	blood:	n/a	n/a
2	ARID3A	chr6:166796573-166796755	K562	blood:	n/a	n/a
3	ARID3A	chr6:166800898-166801916	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:166796328-166797478	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:166814296-166814570	HepG2	liver:	n/a	n/a
6	ATF2	chr6:166796376-166796843	GM12878	blood:	n/a	n/a
7	ATF2	chr6:166796996-166797487	GM12878	blood:	n/a	n/a
8	ATF3	chr6:166796274-166796847	GM12878	blood:	n/a	chr6:166796817-166796825 chr6:166796479-166796499 chr6:166796616-166796625
9	ATF3	chr6:166796333-166796743	H1-hESC	embryonic stem cell:	n/a	chr6:166796479-166796499 chr6:166796616-166796625
10	ATF3	chr6:166796334-166796977	HepG2	liver:	n/a	chr6:166796817-166796825 chr6:166796479-166796499 chr6:166796616-166796625
11	ATF3	chr6:166796271-166797080	K562	blood:	n/a	chr6:166796817-166796825 chr6:166796479-166796499 chr6:166796616-166796625
12	BACH1	chr6:166796586-166797268	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr6:166814385-166814409	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr6:166796971-166797154	K562	blood:	n/a	n/a
15	BACH1	chr6:166814430-166814480	K562	blood:	n/a	n/a
16	BCL3	chr6:166796390-166797220	GM12878	blood:	n/a	chr6:166796612-166796625 chr6:166796995-166797008 chr6:166796621-166796634
17	BCLAF1	chr6:166796099-166796903	GM12878	blood:	n/a	chr6:166796612-166796625 chr6:166796621-166796634
18	BCLAF1	chr6:166796980-166797517	GM12878	blood:	n/a	chr6:166796995-166797008
19	BCLAF1	chr6:166814238-166814635	GM12878	blood:	n/a	n/a
20	BHLHE40	chr6:166796185-166797343	HepG2	liver:	n/a	chr6:166796445-166796461 chr6:166796987-166797003 chr6:166796619-166796635
21	BHLHE40	chr6:166796078-166797514	K562	blood:	n/a	chr6:166796445-166796461 chr6:166796987-166797003 chr6:166796619-166796635
22	BHLHE40	chr6:166814332-166814595	GM12878	blood:	n/a	n/a
23	BHLHE40	chr6:166796246-166797436	GM12878	blood:	n/a	chr6:166796445-166796461 chr6:166796987-166797003 chr6:166796619-166796635
24	BHLHE40	chr6:166814346-166814545	K562	blood:	n/a	n/a
25	BHLHE40	chr6:166819676-166820083	HepG2	liver:	n/a	chr6:166820067-166820083
26	BRCA1	chr6:166814352-166814587	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr6:166801236-166801686	HepG2	liver:	n/a	n/a
28	BRCA1	chr6:166796652-166796762	HepG2	liver:	n/a	n/a
29	CBX3	chr6:166796163-166797683	K562	blood:	n/a	n/a
30	CCNT2	chr6:166795256-166797209	K562	blood:	n/a	chr6:166796616-166796625 chr6:166795492-166795501
31	CEBPB	chr6:166802660-166803003	K562	blood:	n/a	n/a
32	CEBPB	chr6:166802663-166803025	K562	blood:	n/a	n/a
33	CEBPB	chr6:166815385-166815629	IMR90	lung:	n/a	n/a
34	CEBPB	chr6:166808101-166808349	HepG2	liver:	n/a	n/a
35	CEBPB	chr6:166797504-166797721	K562	blood:	n/a	chr6:166797642-166797653
36	CEBPB	chr6:166815400-166815717	HepG2	liver:	n/a	n/a
37	CEBPB	chr6:166801469-166801662	K562	blood:	n/a	chr6:166801579-166801590
38	CEBPB	chr6:166797499-166797808	HepG2	liver:	n/a	chr6:166797642-166797653
39	CEBPB	chr6:166802752-166802935	HepG2	liver:	n/a	n/a
40	CEBPB	chr6:166798551-166798783	IMR90	lung:	n/a	chr6:166798671-166798684 chr6:166798673-166798682 chr6:166798673-166798684
41	CEBPB	chr6:166814361-166814563	HepG2	liver:	n/a	n/a
42	CEBPB	chr6:166797474-166797819	K562	blood:	n/a	chr6:166797642-166797653
43	CEBPB	chr6:166796251-166796923	Hela-S3	cervix:	n/a	chr6:166796419-166796427
44	CEBPB	chr6:166801169-166801797	HepG2	liver:	n/a	chr6:166801579-166801590
45	CEBPB	chr6:166802657-166803080	HepG2	liver:	n/a	n/a
46	CEBPB	chr6:166796347-166796891	K562	blood:	n/a	chr6:166796419-166796427
47	CEBPB	chr6:166797537-166797739	HepG2	liver:	n/a	chr6:166797642-166797653
48	CEBPB	chr6:166813568-166813570	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr6:166797516-166797728	HepG2	liver:	n/a	chr6:166797642-166797653
50	CEBPB	chr6:166802317-166802433	HepG2	liver:	n/a	n/a

(count:2080 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:166797258-166797308	HIPEpiC	eye:	n/a
2	chr6:166797267-166797317	NT2-D1	testis:	n/a
3	chr6:166797128-166797178	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:166797417-166797467	Hela-S3	cervix:	n/a
5	chr6:166796579-166796629	AG04450	lung:	fetal
6	chr6:166797120-166797170	K562	blood:	n/a
7	chr6:166797258-166797308	HIPEpiC	eye:	n/a
8	chr6:166797267-166797317	NT2-D1	testis:	n/a
9	chr6:166797128-166797178	HPAEpiC	pulmonary alveolar:	n/a
10	chr6:166797417-166797467	Hela-S3	cervix:	n/a
11	chr6:166796579-166796629	AG04450	lung:	fetal
12	chr6:166797120-166797170	K562	blood:	n/a
13	chr6:166797738-166797788	BJ	skin:	n/a
14	chr6:166797429-166797479	CMK	blood:	n/a
15	chr6:166796744-166796794	HepG2	liver:	n/a
16	chr6:166796458-166796508	K562	blood:	n/a
17	chr6:166797267-166797317	AoSMC	blood vessel:	n/a
18	chr6:166807114-166807164	H1-hESC	embryonic stem cell:	embryo
19	chr6:166797286-166797336	HIPEpiC	eye:	n/a
20	chr6:166797387-166797437	HEEpiC	esophagus:	n/a
21	chr6:166807114-166807164	SK-N-SH_RA	brain:	n/a
22	chr6:166797120-166797170	PANC-1	pancreas:	n/a
23	chr6:166797286-166797336	HL-60	blood:	n/a
24	chr6:166797417-166797467	GM12891	blood:	n/a
25	chr6:166797748-166797798	HPAEpiC	pulmonary alveolar:	n/a
26	chr6:166796700-166796750	HEK293	kidney:	embryo
27	chr6:166796744-166796794	HCT-116	colon:	n/a
28	chr6:166796891-166796941	SKMC	muscle:	n/a
29	chr6:166796759-166796809	HRPEpiC	eye:	n/a
30	chr6:166797128-166797178	H1-hESC	embryonic stem cell:	embryo
31	chr6:166797367-166797417	T-47D	breast:	n/a
32	chr6:166797419-166797469	HPAEpiC	pulmonary alveolar:	n/a
33	chr6:166796706-166796756	HPAEpiC	pulmonary alveolar:	n/a
34	chr6:166797224-166797274	H1-hESC	embryonic stem cell:	embryo
35	chr6:166797293-166797343	AG09319	gingival:	n/a
36	chr6:166796756-166796806	SK-N-SH	brain:	n/a
37	chr6:166797417-166797467	SK-N-SH_RA	brain:	n/a
38	chr6:166797748-166797798	SK-N-SH	brain:	n/a
39	chr6:166797061-166797111	SK-N-SH_RA	brain:	n/a
40	chr6:166797417-166797467	HCPEpiC	choroid plexus:	n/a
41	chr6:166796588-166796638	HNPCEpiC	eye:	n/a
42	chr6:166807114-166807164	Hela-S3	cervix:	n/a
43	chr6:166796744-166796794	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:166796588-166796638	SK-N-SH_RA	brain:	n/a
45	chr6:166796386-166796436	SAEC	small airway:	n/a
46	chr6:166796752-166796802	IMR90	lung:	fetal
47	chr6:166797258-166797308	GM06990	blood:	n/a
48	chr6:166796588-166796638	HCM	heart:	n/a
49	chr6:166796386-166796436	HRCEpiC	kidney:	n/a
50	chr6:166797120-166797170	HUVEC	blood vessel:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:166754582..166756531-chr6:166813895..166816203,2	K562	blood:
2	chr6:166796680..166799689-chr6:166808021..166810118,3	K562	blood:
3	chr6:166688791..166689846-chr6:166813636..166815059,15	K562	blood:
4	chr6:166795175..166797385-chr6:166810737..166812486,2	K562	blood:
5	chr6:166798810..166800534-chr6:166801868..166804204,3	K562	blood:
6	chr6:166743880..166744818-chr6:166814023..166814944,3	K562	blood:
7	chr6:166742537..166744079-chr6:166803763..166806576,2	K562	blood:
8	chr6:166688810..166689569-chr6:166813843..166814557,4	MCF-7	breast:
9	chr6:166688799..166689857-chr6:166814003..166815015,5	MCF-7	breast:
10	chr6:166751804..166757558-chr6:166793969..166799153,5	K562	blood:
11	chr6:166752914..166754898-chr6:166799719..166801718,2	K562	blood:
12	chr6:166798810..166800534-chr6:166801868..166804204,3	K562	blood:
13	chr6:166795175..166797069-chr6:166810191..166812486,2	K562	blood:
14	chr6:166753320..166757958-chr6:166794622..166799153,8	K562	blood:
15	chr6:166726414..166727356-chr6:166813994..166814993,6	K562	blood:
16	chr6:166744901..166745588-chr6:166814062..166814853,2	K562	blood:
17	chr6:166746293..166747904-chr6:166796894..166799021,2	K562	blood:
18	chr6:166806875..166809454-chr6:166810806..166812778,3	K562	blood:
19	chr6:166743072..166748840-chr6:166793771..166798653,8	K562	blood:
20	chr6:166796680..166799689-chr6:166808021..166810118,3	K562	blood:
21	chr6:166740985..166743870-chr6:166796738..166798607,2	MCF-7	breast:
22	chr6:166806875..166809454-chr6:166810806..166812778,3	K562	blood:
23	chr6:166570178..166571116-chr6:166814377..166814893,2	K562	blood:
24	chr6:166754173..166757774-chr6:166795355..166798060,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGFR1OP-2	chr6:166796964-166802453	NONHSAT116046
2	lnc-FGFR1OP-2	chr6:166801624-166803408	NONHSAT116047
3	lnc-FGFR1OP-2	chr6:166796677-166798312	ENSG00000261420.1

No data

Variant related genes	Relation type
ENSG00000261420	TF binding region
MPC1	TF binding region
ENSG00000261420	CpG island
MPC1	CpG island
ENSG00000233231	chromatin interactions
ENSG00000198818	chromatin interactions
ENSG00000060762	chromatin interactions
ENSG00000261420	chromatin interactions

Extended variants
information (count: 986 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:986 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1546854	chr6:166796433-166796434	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572382575	chr6:166796459-166796460	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs35617576	chr6:166796473-166796474	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs146480117	chr6:166796476-166796477	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs140927897	chr6:166796481-166796482	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs112458095	chr6:166796547-166796548	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs573449898	chr6:166796551-166796552	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs182458694	chr6:166796564-166796565	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs562563891	chr6:166796597-166796598	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs576265992	chr6:166796618-166796619	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs532807774	chr6:166796634-166796635	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs534977566	chr6:166796642-166796643	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs551331702	chr6:166796656-166796657	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs9295337	chr6:166796665-166796666	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs187362143	chr6:166796669-166796670	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs553741713	chr6:166796682-166796683	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs114147375	chr6:166796683-166796684	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs571903531	chr6:166796692-166796693	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs538003062	chr6:166796698-166796699	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs192203818	chr6:166796707-166796708	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs571685250	chr6:166796708-166796709	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs9283865	chr6:166796720-166796721	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553734698	chr6:166796764-166796765	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs13196706	chr6:166796802-166796803	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs572448017	chr6:166796821-166796822	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs9295338	chr6:166796832-166796833	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138388220	chr6:166796853-166796854	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs564683302	chr6:166796874-166796875	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs1546853	chr6:166796911-166796912	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562467909	chr6:166796925-166796926	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs148811928	chr6:166796946-166796947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs183632523	chr6:166796948-166796949	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs186061241	chr6:166796958-166796959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs527236765	chr6:166797000-166797001	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs542951531	chr6:166797042-166797043	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs561130126	chr6:166797060-166797061	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs376930364	chr6:166797067-166797068	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs531426385	chr6:166797090-166797091	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs562478138	chr6:166797170-166797171	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs529792688	chr6:166797331-166797332	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs547879976	chr6:166797378-166797379	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs116158151	chr6:166797414-166797415	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs532629831	chr6:166797526-166797527	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs190284107	chr6:166797536-166797537	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs562859006	chr6:166797574-166797575	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs565739330	chr6:166797590-166797591	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs143445040	chr6:166797617-166797618	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs182504043	chr6:166797666-166797667	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs368229003	chr6:166797675-166797676	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs570303121	chr6:166797713-166797714	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166794400-166797600	Active TSS	GM12878-XiMat	blood
2	chr6:166794400-166797800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:166794400-166798000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:166794600-166797600	Active TSS	Psoas Muscle	Psoas
5	chr6:166794600-166797600	Active TSS	Right Ventricle	heart
6	chr6:166794600-166797800	Active TSS	Brain Angular Gyrus	brain
7	chr6:166794600-166797800	Active TSS	NHEK	skin
8	chr6:166794800-166797200	Active TSS	Fetal Stomach	stomach
9	chr6:166794800-166797400	Active TSS	Fetal Muscle Leg	muscle
10	chr6:166794800-166797600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:166794800-166797600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:166794800-166797600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:166794800-166797600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:166794800-166797600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:166794800-166797600	Active TSS	Fetal Intestine Large	intestine
16	chr6:166794800-166797600	Active TSS	HSMMtube	muscle
17	chr6:166794800-166797600	Active TSS	K562	blood
18	chr6:166794800-166797600	Active TSS	NHLF	lung
19	chr6:166794800-166797800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr6:166794800-166797800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:166794800-166797800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:166794800-166797800	Active TSS	Stomach Mucosa	stomach
23	chr6:166794800-166798000	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:166795000-166797200	Active TSS	Primary B cells from peripheral blood	blood
25	chr6:166795000-166797200	Active TSS	Fetal Lung	lung
26	chr6:166795000-166797200	Active TSS	Dnd41	blood
27	chr6:166795000-166797400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr6:166795000-166797400	Active TSS	Fetal Muscle Trunk	muscle
29	chr6:166795000-166797400	Active TSS	Placenta Amnion	Placenta Amnion
30	chr6:166795000-166797600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:166795000-166797600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:166795000-166797600	Active TSS	Aorta	Aorta
33	chr6:166795000-166797600	Active TSS	Ovary	ovary
34	chr6:166795000-166797600	Active TSS	A549	lung
35	chr6:166795000-166797600	Active TSS	NHDF-Ad	bronchial
36	chr6:166795000-166797800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:166795000-166797800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr6:166795000-166797800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:166795000-166797800	Active TSS	Fetal Intestine Small	intestine
40	chr6:166795000-166797800	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr6:166795000-166798000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:166795000-166798000	Active TSS	Brain Hippocampus Middle	brain
43	chr6:166795000-166798000	Active TSS	Colonic Mucosa	Colon
44	chr6:166795000-166798000	Active TSS	Hela-S3	cervix
45	chr6:166795200-166797200	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr6:166795200-166797400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:166795200-166797400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr6:166795200-166797400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr6:166795200-166797400	Active TSS	Colon Smooth Muscle	Colon
50	chr6:166795200-166797600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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