Variant report

Variant	rs731350
Chromosome Location	chr12:49524587-49524588
allele	C/G
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	MYC	chr12:49523695-49526321	K562	blood:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
2	SP4	chr12:49523847-49524771	H1-hESC	embryonic stem cell:	n/a	chr12:49524115-49524126 chr12:49524113-49524129
3	HMGN3	chr12:49523942-49525569	K562	blood:	n/a	n/a
4	NRF1	chr12:49524109-49524776	H1-hESC	embryonic stem cell:	n/a	chr12:49524632-49524646 chr12:49524573-49524584 chr12:49524575-49524584 chr12:49524634-49524643 chr12:49524573-49524587 chr12:49524573-49524584 chr12:49524570-49524584 chr12:49524710-49524719 chr12:49524632-49524643 chr12:49524573-49524582
5	POLR2A	chr12:49523854-49525647	H1-neurons	neurons:	n/a	n/a
6	RAD21	chr12:49523972-49524682	IMR90	lung:	n/a	chr12:49524364-49524378
7	POLR2A	chr12:49523570-49525647	MCF-7	breast:	n/a	n/a
8	TAF1	chr12:49524543-49524818	GM12892	blood:	n/a	n/a
9	POLR2A	chr12:49522817-49525243	GM12891	blood:	n/a	n/a
10	POLR2A	chr12:49523612-49525631	GM12892	blood:	n/a	n/a
11	POLR2A	chr12:49522738-49526030	GM12891	blood:	n/a	n/a
12	JUND	chr12:49523830-49525632	A549	lung:	n/a	chr12:49525224-49525233
13	CBX3	chr12:49523892-49524786	K562	blood:	n/a	n/a
14	CTCF	chr12:49524500-49524650	BE2_C	brain:	n/a	n/a
15	POLR2A	chr12:49523953-49525618	MCF-7	breast:	n/a	n/a
16	YY1	chr12:49524401-49524824	K562	blood:	n/a	n/a
17	POLR2A	chr12:49523904-49526190	Raji	blood:	n/a	n/a
18	PML	chr12:49523504-49526012	K562	blood:	n/a	n/a
19	BRCA1	chr12:49523814-49524653	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAZ	chr12:49523891-49526135	Hela-S3	cervix:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
21	TBP	chr12:49523914-49527115	Hela-S3	cervix:	n/a	n/a
22	CREB1	chr12:49523893-49525581	A549	lung:	n/a	n/a
23	CEBPB	chr12:49523882-49524793	K562	blood:	n/a	chr12:49524435-49524452
24	CREB1	chr12:49523838-49525750	GM12878	blood:	n/a	n/a
25	TCF7L2	chr12:49523942-49524754	HCT-116	colon:	n/a	n/a
26	POLR2A	chr12:49523877-49525295	HepG2	liver:	n/a	n/a
27	ATF2	chr12:49523512-49524832	H1-hESC	embryonic stem cell:	n/a	n/a
28	CBX3	chr12:49523670-49525688	K562	blood:	n/a	n/a
29	YY1	chr12:49523886-49525612	K562	blood:	n/a	chr12:49525344-49525355 chr12:49525211-49525222 chr12:49525346-49525355 chr12:49525222-49525233
30	HEY1	chr12:49523110-49525282	HepG2	liver:	n/a	chr12:49525016-49525031 chr12:49523999-49524014 chr12:49525182-49525197
31	POU2F2	chr12:49523817-49525270	GM12891	blood:	n/a	chr12:49525219-49525231 chr12:49525214-49525226
32	RELA	chr12:49523953-49525606	GM15510	blood:	n/a	n/a
33	MAX	chr12:49523891-49524821	HepG2	liver:	n/a	chr12:49524068-49524078 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
34	POLR2A	chr12:49523942-49525607	HepG2	liver:	n/a	n/a
35	POLR2A	chr12:49522676-49525736	HUVEC	blood vessel:	n/a	n/a
36	MAFK	chr12:49523892-49525227	Hela-S3	cervix:	n/a	n/a
37	REST	chr12:49524570-49525285	PANC-1	pancreas:	n/a	chr12:49525014-49525024
38	YY1	chr12:49523866-49525617	GM12878	blood:	n/a	chr12:49525344-49525355 chr12:49525211-49525222 chr12:49525346-49525355 chr12:49525222-49525233
39	YY1	chr12:49524523-49524823	GM12891	blood:	n/a	n/a
40	PAX5	chr12:49524409-49524806	GM12878	blood:	n/a	chr12:49524633-49524642 chr12:49524686-49524695
41	SP1	chr12:49523818-49524824	GM12878	blood:	n/a	chr12:49524116-49524125 chr12:49524115-49524126 chr12:49524115-49524127 chr12:49524115-49524127 chr12:49524117-49524126 chr12:49524117-49524126 chr12:49524116-49524126 chr12:49524112-49524126 chr12:49524116-49524126
42	EP300	chr12:49524382-49525122	HepG2	liver:	n/a	chr12:49524684-49524698 chr12:49524685-49524694
43	BHLHE40	chr12:49523882-49525510	HepG2	liver:	n/a	chr12:49525180-49525196 chr12:49525292-49525308
44	KAT2A	chr12:49523723-49525210	Hela-S3	cervix:	n/a	n/a
45	MAX	chr12:49523862-49524849	K562	blood:	n/a	chr12:49524068-49524078 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
46	MYC	chr12:49523585-49525901	A549	lung:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
47	FOXA2	chr12:49524537-49525469	A549	lung:	n/a	n/a
48	TAF1	chr12:49523986-49525585	HepG2	liver:	n/a	n/a
49	MYC	chr12:49524531-49524741	MCF-7	breast:	n/a	n/a
50	MAX	chr12:49523657-49525698	SK-N-SH	brain:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49524541-49524591	CMK	blood:	n/a
2	chr12:49524560-49524610	NB4	blood:	n/a
3	chr12:49524541-49524591	A549	lung:	n/a
4	chr12:49524560-49524610	HCF	heart:	n/a
5	chr12:49524541-49524591	LNCaP	prostate:	n/a
6	chr12:49524541-49524591	NHBE	bronchial:	n/a
7	chr12:49524560-49524610	MCF10A-Er-Src	breast:	n/a
8	chr12:49524541-49524591	AG10803	skin:	n/a
9	chr12:49524560-49524610	ovcar-3	ovarian:	n/a
10	chr12:49524541-49524591	NB4	blood:	n/a
11	chr12:49524560-49524610	HRCEpiC	kidney:	n/a
12	chr12:49524560-49524610	K562	blood:	n/a
13	chr12:49524541-49524591	HMEC	breast:	n/a
14	chr12:49524541-49524591	MCF10A-Er-Src	breast:	n/a
15	chr12:49524560-49524610	BJ	skin:	n/a
16	chr12:49524541-49524591	BJ	skin:	n/a
17	chr12:49524560-49524610	H1-hESC	embryonic stem cell:	embryo
18	chr12:49524541-49524591	ovcar-3	ovarian:	n/a
19	chr12:49524560-49524610	IMR90	lung:	fetal
20	chr12:49524560-49524610	GM06990	blood:	n/a
21	chr12:49524541-49524591	HepG2	liver:	n/a
22	chr12:49524560-49524610	HAEpiC	amniotic membrane:	n/a
23	chr12:49524560-49524610	SK-N-MC	brain:	n/a
24	chr12:49524560-49524610	CMK	blood:	n/a
25	chr12:49524560-49524610	HUVEC	blood vessel:	n/a
26	chr12:49524541-49524591	IMR90	lung:	fetal
27	chr12:49524560-49524610	AG04449	skin:	fetal
28	chr12:49524541-49524591	SKMC	muscle:	n/a
29	chr12:49524560-49524610	SKMC	muscle:	n/a
30	chr12:49524541-49524591	PANC-1	pancreas:	n/a
31	chr12:49524560-49524610	AoSMC	blood vessel:	n/a
32	chr12:49524560-49524610	HEK293	kidney:	embryo
33	chr12:49524560-49524610	GM12892	blood:	n/a
34	chr12:49524560-49524610	GM12878	blood:	n/a
35	chr12:49524541-49524591	HIPEpiC	eye:	n/a
36	chr12:49524541-49524591	HCM	heart:	n/a
37	chr12:49524541-49524591	Hela-S3	cervix:	n/a
38	chr12:49524560-49524610	HRE	kidney:	n/a
39	chr12:49524560-49524610	MCF-7	breast:	n/a
40	chr12:49524560-49524610	PrEC	prostate:	n/a
41	chr12:49524560-49524610	Hela-S3	cervix:	n/a
42	chr12:49524541-49524591	AG09319	gingival:	n/a
43	chr12:49524560-49524610	AG09309	skin:	n/a
44	chr12:49524541-49524591	HAEpiC	amniotic membrane:	n/a
45	chr12:49524541-49524591	HCPEpiC	choroid plexus:	n/a
46	chr12:49524541-49524591	K562	blood:	n/a
47	chr12:49524541-49524591	Caco-2	colon:	n/a
48	chr12:49524541-49524591	HRPEpiC	eye:	n/a
49	chr12:49524560-49524610	GM19239	blood:	n/a
50	chr12:49524541-49524591	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49523706..49526236-chr12:50134306..50136655,2	K562	blood:
2	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
3	chr12:49522979..49526796-chr12:49655970..49661455,13	MCF-7	breast:
4	chr12:49387824..49389394-chr12:49523578..49525340,2	K562	blood:
5	chr12:49349007..49352698-chr12:49523718..49526243,3	K562	blood:
6	chr12:49410733..49415536-chr12:49523564..49526910,8	K562	blood:
7	chr12:49395492..49398353-chr12:49523605..49526293,2	K562	blood:
8	chr12:49523171..49526001-chr12:49621210..49624929,3	MCF-7	breast:
9	chr12:49478072..49490419-chr12:49518907..49527034,52	K562	blood:
10	chr12:49523620..49525401-chr6:83775446..83777395,2	K562	blood:
11	chr12:49408415..49414757-chr12:49522619..49525582,9	MCF-7	breast:
12	chr12:49425028..49428034-chr12:49523264..49526467,3	MCF-7	breast:
13	chr1:32816354..32817294-chr12:49524489..49525381,2	Hela-S3	cervix:
14	chr12:49500412..49506796-chr12:49520694..49526646,13	MCF-7	breast:
15	chr12:49524416..49525157-chr19:47760741..47761642,2	Hela-S3	cervix:
16	chr12:49524221..49525221-chr16:90038565..90039231,2	HCT-116	colon:
17	chr12:49524294..49525149-chr2:42720578..42721463,2	HCT-116	colon:
18	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
19	chr1:149858292..149859127-chr12:49524232..49525283,3	Hela-S3	cervix:
20	chr12:49523298..49526534-chr12:49578242..49583023,5	K562	blood:
21	chr12:49524135..49525075-chr5:95066891..95067688,2	Hela-S3	cervix:
22	chr12:49412128..49415221-chr12:49522907..49525212,5	MCF-7	breast:
23	chr12:49524047..49524936-chr17:54671960..54672664,2	Hela-S3	cervix:
24	chr12:49523938..49524712-chr15:51673098..51673696,2	MCF-7	breast:
25	chr1:119682375..119683295-chr12:49524573..49525496,2	Hela-S3	cervix:
26	chr12:49481394..49485222-chr12:49523488..49526115,4	MCF-7	breast:
27	chr11:58911587..58912576-chr12:49523987..49524807,2	Hela-S3	cervix:
28	chr12:49432057..49433907-chr12:49523639..49525238,2	K562	blood:
29	chr1:167905741..167906290-chr12:49524077..49524665,2	Hela-S3	cervix:
30	chr12:49523107..49527860-chr12:49656151..49664210,14	MCF-7	breast:
31	chr12:49524073..49524692-chr3:143690181..143691150,2	Hela-S3	cervix:
32	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
33	chr12:49462171..49464996-chr12:49523872..49525977,3	MCF-7	breast:
34	chr12:49391708..49393677-chr12:49523615..49525331,2	K562	blood:
35	chr12:49524577..49525596-chr15:65587750..65588718,4	Hela-S3	cervix:
36	chr12:49523734..49526055-chr12:49729624..49732129,2	K562	blood:
37	chr12:49524528..49525193-chr3:179322601..179323368,2	Hela-S3	cervix:
38	chr12:49523933..49524859-chr19:1251035..1251630,2	Hela-S3	cervix:
39	chr12:49497413..49500186-chr12:49523883..49526530,3	MCF-7	breast:
40	chr12:49207152..49209169-chr12:49524378..49526009,2	K562	blood:
41	chr1:149223422..149226042-chr12:49523996..49525973,2	MCF-7	breast:
42	chr12:49523551..49526039-chr17:56756655..56758346,2	K562	blood:
43	chr12:49411020..49415552-chr12:49523211..49527183,13	K562	blood:
44	chr12:49524515..49525072-chr5:96143647..96144215,2	Hela-S3	cervix:
45	chr12:49524009..49524930-chr17:57923318..57924077,2	MCF-7	breast:
46	chr12:49524142..49526154-chr12:49690463..49692891,2	MCF-7	breast:
47	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
48	chr12:49519914..49528393-chr12:49656527..49662615,75	K562	blood:
49	chr12:49524532..49525108-chr5:107717478..107718091,2	Hela-S3	cervix:
50	chr12:49519590..49527322-chr12:49655772..49662610,57	K562	blood:

Variant related genes	Relation type
TUBA1B	TF binding region
ENSG00000258017	TF binding region
TUBA1B	CpG island
ENSG00000258017	CpG island
ENSG00000167535	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000105321	Chromatin interaction
ENSG00000258283	Chromatin interaction
ENSG00000167470	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000177946	Chromatin interaction
ENSG00000162526	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000171126	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000118420	Chromatin interaction
ENSG00000181418	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000143158	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000257913	Chromatin interaction
ENSG00000186897	Chromatin interaction
ENSG00000083097	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000143164	Chromatin interaction
ENSG00000116874	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000145743	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000099899	Chromatin interaction
ENSG00000181744	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000231365	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000136521	Chromatin interaction
ENSG00000139131	Chromatin interaction
ENSG00000144224	Chromatin interaction
ENSG00000166801	Chromatin interaction
ENSG00000223959	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000135406	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1039225	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs1057548	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10747561	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10747562	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10747563	0.94[CHB][hapmap]
rs10783302	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs10783304	0.90[ASN][1000 genomes]
rs10783306	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10783307	0.87[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10875922	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10875924	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10875925	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875927	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10875928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10875929	0.87[EUR][1000 genomes]
rs10875930	0.84[EUR][1000 genomes]
rs10875931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs10875934	0.94[CHB][hapmap]
rs11168857	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11168862	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168867	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168874	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168882	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168883	0.82[EUR][1000 genomes]
rs11168884	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168885	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168888	0.86[EUR][1000 genomes]
rs11168890	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11168893	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs11168894	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11168895	0.85[EUR][1000 genomes]
rs11168901	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11168902	0.82[EUR][1000 genomes]
rs11168903	0.83[EUR][1000 genomes]
rs11168904	0.88[EUR][1000 genomes]
rs11168909	0.84[EUR][1000 genomes]
rs11168910	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11837207	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12227296	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12227610	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12227770	0.83[EUR][1000 genomes]
rs12228775	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12229524	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12229529	0.83[EUR][1000 genomes]
rs12306494	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12318740	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12579015	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1476137	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476138	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1874908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[EUR][1000 genomes]
rs1991427	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1991428	0.86[EUR][1000 genomes]
rs2047101	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2114845	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2114846	0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2162643	0.87[EUR][1000 genomes]
rs2162644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2241727	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279596	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs2334930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs2334931	0.88[EUR][1000 genomes]
rs2753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2878287	0.84[EUR][1000 genomes]
rs35884657	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3741621	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs57853986	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58336603	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58711211	0.83[EUR][1000 genomes]
rs6580701	0.88[EUR][1000 genomes]
rs6580703	0.85[EUR][1000 genomes]
rs697624	0.83[EUR][1000 genomes]
rs7306084	0.94[CHB][hapmap]
rs73110168	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311346	0.88[EUR][1000 genomes]
rs7953169	0.83[EUR][1000 genomes]
rs7954521	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7954530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs7957983	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs7958241	0.87[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958572	0.96[CEU][hapmap];0.92[YRI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7959497	0.82[CEU][hapmap];0.94[CHB][hapmap]
rs7969963	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969967	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976890	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7978448	0.87[CEU][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7978659	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9325145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9739878	0.82[EUR][1000 genomes]
rs9788139	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788140	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv975485	chr12:49521410-49525683	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	124 gene(s)	inside rSNPs	diseases
5	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49522800-49524600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
2	chr12:49522800-49524600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:49522800-49524600	Transcr. at gene 5' and 3'	NH-A	brain
4	chr12:49522800-49524800	Transcr. at gene 5' and 3'	A549	lung
5	chr12:49522800-49525200	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr12:49523000-49524600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:49523000-49524800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:49523200-49524600	Transcr. at gene 5' and 3'	K562	blood
9	chr12:49523200-49525000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
10	chr12:49523200-49525200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:49523400-49524600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:49523400-49524600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:49523400-49524600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
14	chr12:49523400-49524600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
15	chr12:49523400-49524600	Transcr. at gene 5' and 3'	NHEK	skin
16	chr12:49523400-49525000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
17	chr12:49523400-49525200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
18	chr12:49523400-49525200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
19	chr12:49523600-49524600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
20	chr12:49523600-49524600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:49523600-49524600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:49523600-49524600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr12:49523600-49524600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
24	chr12:49523600-49524600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
25	chr12:49523600-49524600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr12:49523600-49524800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
27	chr12:49523600-49524800	Transcr. at gene 5' and 3'	Fetal Lung	lung
28	chr12:49523600-49525200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:49523600-49525200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
30	chr12:49523600-49525600	Active TSS	Small Intestine	intestine
31	chr12:49523600-49525800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:49523600-49526000	Active TSS	Right Ventricle	heart
33	chr12:49523800-49524600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:49523800-49524600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:49523800-49524600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr12:49523800-49524600	Flanking Active TSS	Liver	Liver
37	chr12:49523800-49524800	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:49523800-49525000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:49523800-49525200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr12:49523800-49525200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:49523800-49525600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:49523800-49525600	Active TSS	Lung	lung
43	chr12:49523800-49525600	Active TSS	HSMMtube	muscle
44	chr12:49523800-49525800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:49523800-49526200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr12:49523800-49526200	Active TSS	Esophagus	oesophagus
47	chr12:49523800-49527200	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:49524000-49524600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr12:49524000-49524600	Flanking Active TSS	Placenta	Placenta
50	chr12:49524000-49524600	Flanking Active TSS	HepG2	liver

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