Variant report

Variant	esv3489556
Chromosome Location	chr1:161129735-161131477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr1:161128703-161130013	A549	lung:	n/a	chr1:161129563-161129576
2	CBX3	chr1:161128303-161129860	K562	blood:	n/a	n/a
3	CHD1	chr1:161129692-161129827	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr1:161130645-161130653	K562	blood:	n/a	n/a
5	CHD2	chr1:161129722-161129922	GM12878	blood:	n/a	n/a
6	CHD2	chr1:161128971-161130265	K562	blood:	n/a	chr1:161129553-161129560
7	CHD2	chr1:161128938-161129823	Hela-S3	cervix:	n/a	chr1:161129553-161129560
8	CHD2	chr1:161128841-161129818	H1-hESC	embryonic stem cell:	n/a	chr1:161129553-161129560
9	CTCF	chr1:161130260-161130410	GM12866	blood:	n/a	n/a
10	CTCF	chr1:161129620-161129770	HMEC	breast:	n/a	n/a
11	ELF1	chr1:161128884-161129861	GM12878	blood:	n/a	n/a
12	GABPA	chr1:161128771-161129736	K562	blood:	n/a	n/a
13	HCFC1	chr1:161128897-161129921	K562	blood:	n/a	n/a
14	HCFC1	chr1:161128410-161130377	Hela-S3	cervix:	n/a	n/a
15	HEY1	chr1:161129006-161130368	K562	blood:	n/a	n/a
16	MAX	chr1:161128553-161129981	A549	lung:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
17	MAX	chr1:161128410-161129925	K562	blood:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
18	MAX	chr1:161128683-161129843	H1-hESC	embryonic stem cell:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
19	MAX	chr1:161128850-161129814	ECC-1	luminal epithelium:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
20	MAZ	chr1:161128742-161130037	IMR90	lung:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
21	MAZ	chr1:161128543-161129837	K562	blood:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
22	MAZ	chr1:161129082-161129740	GM12878	blood:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
23	MTA3	chr1:161128574-161130068	GM12878	blood:	n/a	n/a
24	MXI1	chr1:161128981-161129885	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr1:161128262-161129915	IMR90	lung:	n/a	n/a
26	MYC	chr1:161128415-161129859	K562	blood:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
27	NANOG	chr1:161129109-161129749	H1-hESC	embryonic stem cell:	n/a	chr1:161129698-161129707
28	NFATC1	chr1:161128806-161129864	GM12878	blood:	n/a	n/a
29	NFYA	chr1:161129471-161129785	Hela-S3	cervix:	n/a	chr1:161129639-161129654 chr1:161129639-161129653 chr1:161129639-161129652 chr1:161129639-161129654 chr1:161129641-161129651 chr1:161129641-161129651 chr1:161129638-161129650
30	NFYB	chr1:161129471-161129873	Hela-S3	cervix:	n/a	chr1:161129639-161129654 chr1:161129639-161129653 chr1:161129639-161129652 chr1:161129639-161129654 chr1:161129636-161129651 chr1:161129641-161129651 chr1:161129641-161129651 chr1:161129638-161129650
31	NFYB	chr1:161129455-161129889	GM12878	blood:	n/a	chr1:161129639-161129654 chr1:161129639-161129653 chr1:161129639-161129652 chr1:161129639-161129654 chr1:161129636-161129651 chr1:161129641-161129651 chr1:161129641-161129651 chr1:161129638-161129650
32	NFYB	chr1:161129165-161129889	K562	blood:	n/a	chr1:161129639-161129654 chr1:161129639-161129653 chr1:161129639-161129652 chr1:161129639-161129654 chr1:161129636-161129651 chr1:161129641-161129651 chr1:161129641-161129651 chr1:161129638-161129650
33	NR2F2	chr1:161128302-161129928	K562	blood:	n/a	chr1:161129723-161129738
34	NR2F2	chr1:161129560-161129884	K562	blood:	n/a	chr1:161129723-161129738
35	NRF1	chr1:161128499-161130299	SK-N-SH	brain:	n/a	chr1:161129252-161129263
36	NRF1	chr1:161129014-161129783	Hela-S3	cervix:	n/a	chr1:161129252-161129263
37	POLR2A	chr1:161128335-161130429	K562	blood:	n/a	n/a
38	POLR2A	chr1:161128811-161129893	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:161128626-161129829	PBDE	blood:	n/a	n/a
40	POLR2A	chr1:161128568-161130055	K562	blood:	n/a	n/a
41	POLR2A	chr1:161130594-161130616	K562	blood:	n/a	n/a
42	POLR2A	chr1:161128767-161130122	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr1:161128780-161129896	IMR90	lung:	n/a	n/a
44	POLR2A	chr1:161128410-161130469	HepG2	liver:	n/a	n/a
45	POLR2A	chr1:161128862-161129818	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr1:161128942-161129869	HEK293	kidney:	n/a	n/a
47	POLR2A	chr1:161128795-161129947	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr1:161128807-161129884	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr1:161128656-161129936	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:161128871-161129819	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161129745-161129795	HIPEpiC	eye:	n/a
2	chr1:161129745-161129795	NT2-D1	testis:	n/a
3	chr1:161129745-161129795	SK-N-MC	brain:	n/a
4	chr1:161129745-161129795	HepG2	liver:	n/a
5	chr1:161129745-161129795	HAEpiC	amniotic membrane:	n/a
6	chr1:161129745-161129795	HEEpiC	esophagus:	n/a
7	chr1:161129745-161129795	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:161129745-161129795	NHBE	bronchial:	n/a
9	chr1:161129745-161129795	BJ	skin:	n/a
10	chr1:161129745-161129795	AG04450	lung:	fetal
11	chr1:161129745-161129795	K562	blood:	n/a
12	chr1:161129745-161129795	BE2_C	brain:	n/a
13	chr1:161129745-161129795	HEK293	kidney:	embryo
14	chr1:161129745-161129795	GM12891	blood:	n/a
15	chr1:161129745-161129795	AoSMC	blood vessel:	n/a
16	chr1:161129745-161129795	Jurkat	blood:	n/a
17	chr1:161129745-161129795	CMK	blood:	n/a
18	chr1:161129745-161129795	GM19239	blood:	n/a
19	chr1:161129745-161129795	MCF-7	breast:	n/a
20	chr1:161129745-161129795	AG04449	skin:	fetal
21	chr1:161129745-161129795	HMEC	breast:	n/a
22	chr1:161129745-161129795	GM12892	blood:	n/a
23	chr1:161129745-161129795	PrEC	prostate:	n/a
24	chr1:161129745-161129795	NH-A	brain:	n/a
25	chr1:161129745-161129795	HL-60	blood:	n/a
26	chr1:161129745-161129795	ECC-1	luminal epithelium:	n/a
27	chr1:161129745-161129795	U87	brain:	n/a
28	chr1:161129745-161129795	NB4	blood:	n/a
29	chr1:161129745-161129795	LNCaP	prostate:	n/a
30	chr1:161129745-161129795	SK-N-SH	brain:	n/a
31	chr1:161129745-161129795	SKMC	muscle:	n/a
32	chr1:161129745-161129795	A549	lung:	n/a
33	chr1:161129745-161129795	ProgFib	skin:	n/a
34	chr1:161129745-161129795	HRCEpiC	kidney:	n/a
35	chr1:161129745-161129795	HNPCEpiC	eye:	n/a
36	chr1:161129745-161129795	PFSK-1	brain:	n/a
37	chr1:161129745-161129795	GM06990	blood:	n/a
38	chr1:161129745-161129795	AG09309	skin:	n/a
39	chr1:161129745-161129795	Caco-2	colon:	n/a
40	chr1:161129745-161129795	HRPEpiC	eye:	n/a
41	chr1:161129745-161129795	HCT-116	colon:	n/a
42	chr1:161129745-161129795	AG09319	gingival:	n/a
43	chr1:161129745-161129795	RPTEC	kidney:	n/a
44	chr1:161129745-161129795	MCF10A-Er-Src	breast:	n/a
45	chr1:161129745-161129795	GM12878	blood:	n/a
46	chr1:161129745-161129795	SAEC	small airway:	n/a
47	chr1:161129745-161129795	HCPEpiC	choroid plexus:	n/a
48	chr1:161129745-161129795	ovcar-3	ovarian:	n/a
49	chr1:161129745-161129795	HCM	heart:	n/a
50	chr1:161129745-161129795	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161101282..161104235-chr1:161127986..161130833,4	MCF-7	breast:
2	chr1:160989693..160991522-chr1:161127596..161130418,2	MCF-7	breast:
3	chr1:160231832..160233674-chr1:161127837..161130606,2	MCF-7	breast:
4	chr1:161128018..161129911-chr1:161170467..161173789,3	K562	blood:
5	chr1:161100691..161104235-chr1:161128857..161130819,4	K562	blood:
6	chr1:161130520..161133056-chr1:161166006..161167736,2	K562	blood:
7	chr1:161101050..161105947-chr1:161126092..161130683,11	K562	blood:
8	chr1:161011414..161013032-chr1:161129851..161132212,2	K562	blood:
9	chr1:161085658..161090812-chr1:161125926..161133105,17	K562	blood:
10	chr1:161052998..161054950-chr1:161128036..161130636,2	MCF-7	breast:
11	chr1:161128751..161130724-chr1:161170850..161173844,2	MCF-7	breast:
12	chr1:160989787..160992592-chr1:161127591..161130267,2	K562	blood:
13	chr1:161127959..161129889-chr1:161169079..161171967,3	K562	blood:
14	chr1:161067905..161072134-chr1:161127935..161131211,3	MCF-7	breast:
15	chr1:161085978..161089990-chr1:161127865..161134037,11	K562	blood:
16	chr1:160990492..160992160-chr1:161130814..161132595,2	K562	blood:
17	chr1:161129253..161129757-chr12:30907615..30908521,2	Hela-S3	cervix:
18	chr1:161129146..161131988-chr1:161170465..161172275,2	MCF-7	breast:

Variant related genes	Relation type
PPOX	TF binding region
USP21	TF binding region
ENSG00000224985	TF binding region
PPOX	CpG island
USP21	CpG island
ENSG00000224985	CpG island
ENSG00000158864	chromatin interactions
ENSG00000158793	chromatin interactions
ENSG00000143256	chromatin interactions
ENSG00000132716	chromatin interactions
ENSG00000158769	chromatin interactions
ENSG00000228917	chromatin interactions
ENSG00000158796	chromatin interactions
ENSG00000158773	chromatin interactions
ENSG00000162755	chromatin interactions
ENSG00000110888	chromatin interactions
ENSG00000246331	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575136968	chr1:161129751-161129752	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs77816185	chr1:161129752-161129753	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs561228505	chr1:161129780-161129781	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs6703741	chr1:161129786-161129787	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs137981452	chr1:161129817-161129818	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs80118792	chr1:161129855-161129856	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs532852004	chr1:161129863-161129864	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs552948224	chr1:161129873-161129874	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs569435615	chr1:161129895-161129896	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs562439412	chr1:161129905-161129906	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs34222337	chr1:161130021-161130022	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550625246	chr1:161130041-161130042	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs567262745	chr1:161130133-161130134	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs374319270	chr1:161130155-161130156	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs536378233	chr1:161130204-161130205	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs552527785	chr1:161130285-161130286	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs566177531	chr1:161130370-161130371	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs573665408	chr1:161130377-161130378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs373250780	chr1:161130416-161130417	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs140487526	chr1:161130448-161130449	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs199737344	chr1:161130453-161130454	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs147848740	chr1:161130455-161130456	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs149985789	chr1:161130461-161130462	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs116557343	chr1:161130468-161130469	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs575048074	chr1:161130524-161130525	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs369560591	chr1:161130531-161130532	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs149171020	chr1:161130541-161130542	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs544093165	chr1:161130542-161130543	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs372804422	chr1:161130543-161130544	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs554785282	chr1:161130557-161130558	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs115968198	chr1:161130579-161130580	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs377369830	chr1:161130594-161130595	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs202128032	chr1:161130595-161130596	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs560488704	chr1:161130622-161130623	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs138981004	chr1:161130625-161130626	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs201630346	chr1:161130638-161130639	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs145921869	chr1:161130648-161130649	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs370790417	chr1:161130649-161130650	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs373004398	chr1:161130678-161130679	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs137880709	chr1:161130700-161130701	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs34779722	chr1:161130701-161130702	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147394083	chr1:161130703-161130704	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs370862481	chr1:161130709-161130710	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs186717254	chr1:161130710-161130711	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs367894011	chr1:161130751-161130752	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs372425350	chr1:161130755-161130756	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs375476473	chr1:161130757-161130758	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs372271090	chr1:161130769-161130770	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs191180673	chr1:161130788-161130789	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs200067760	chr1:161130812-161130813	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD

Chromatin state (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161128600-161129800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:161128600-161129800	Active TSS	Fetal Brain Female	brain
3	chr1:161128600-161130000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:161128600-161130000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr1:161128600-161130000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:161128600-161130200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:161128600-161130800	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr1:161128800-161129800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:161128800-161129800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
10	chr1:161128800-161129800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:161128800-161129800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:161128800-161130000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:161128800-161130000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:161128800-161130000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:161128800-161130000	Active TSS	Psoas Muscle	Psoas
16	chr1:161128800-161130200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:161129000-161129800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:161129000-161129800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:161129000-161129800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:161129000-161129800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:161129000-161129800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:161129000-161129800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:161129000-161129800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:161129000-161129800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:161129000-161129800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:161129000-161129800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:161129000-161129800	Active TSS	Aorta	Aorta
28	chr1:161129000-161129800	Active TSS	Brain Anterior Caudate	brain
29	chr1:161129000-161129800	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:161129000-161129800	Active TSS	Brain Germinal Matrix	brain
31	chr1:161129000-161129800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:161129000-161129800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:161129000-161129800	Active TSS	Brain Substantia Nigra	brain
34	chr1:161129000-161129800	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:161129000-161129800	Active TSS	Esophagus	oesophagus
36	chr1:161129000-161129800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr1:161129000-161129800	Active TSS	Fetal Heart	heart
38	chr1:161129000-161129800	Active TSS	Fetal Intestine Large	intestine
39	chr1:161129000-161129800	Active TSS	Fetal Lung	lung
40	chr1:161129000-161129800	Active TSS	Fetal Muscle Leg	muscle
41	chr1:161129000-161129800	Active TSS	Fetal Stomach	stomach
42	chr1:161129000-161129800	Active TSS	Gastric	stomach
43	chr1:161129000-161129800	Active TSS	Lung	lung
44	chr1:161129000-161129800	Active TSS	Ovary	ovary
45	chr1:161129000-161129800	Active TSS	Pancreas	Pancrea
46	chr1:161129000-161129800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr1:161129000-161129800	Active TSS	Rectal Smooth Muscle	rectum
48	chr1:161129000-161129800	Active TSS	Right Ventricle	heart
49	chr1:161129000-161129800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr1:161129000-161129800	Active TSS	Spleen	Spleen

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