Variant report

Variant	rs12714172
Chromosome Location	chr2:86421702-86421703
allele	C/T
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	POLR2A	chr2:86421138-86423364	K562	blood:	n/a	n/a
2	MBD4	chr2:86421678-86423364	HepG2	liver:	n/a	n/a
3	CHD2	chr2:86421633-86423250	K562	blood:	n/a	chr2:86422993-86423000
4	POLR2A	chr2:86421548-86423174	K562	blood:	n/a	n/a
5	ZC3H11A	chr2:86421463-86422696	K562	blood:	n/a	n/a
6	POLR2A	chr2:86421190-86423360	K562	blood:	n/a	n/a
7	TCF12	chr2:86421622-86423467	A549	lung:	n/a	n/a
8	POLR2A	chr2:86421148-86423363	K562	blood:	n/a	n/a
9	TCF7L2	chr2:86421556-86422897	HEK293	kidney:	n/a	n/a
10	CHD1	chr2:86420878-86423375	IMR90	lung:	n/a	chr2:86422993-86423000
11	EP300	chr2:86421693-86423015	GM12878	blood:	n/a	chr2:86422251-86422267
12	TAL1	chr2:86421282-86423247	K562	blood:	n/a	n/a
13	POLR2A	chr2:86421668-86423367	IMR90	lung:	n/a	n/a
14	IRF1	chr2:86421524-86423365	K562	blood:	n/a	chr2:86421555-86421564 chr2:86421726-86421738 chr2:86421913-86421930 chr2:86421918-86421930 chr2:86421723-86421737 chr2:86421918-86421932 chr2:86421918-86421931 chr2:86421918-86421931 chr2:86421918-86421930 chr2:86421919-86421933 chr2:86421918-86421929
15	SRF	chr2:86421661-86423108	MCF-7	breast:	n/a	chr2:86422780-86422794 chr2:86422602-86422612 chr2:86422042-86422060
16	POLR2A	chr2:86421614-86423413	K562	blood:	n/a	n/a
17	MAX	chr2:86421657-86423342	Hela-S3	cervix:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
18	MYBL2	chr2:86421665-86423531	HepG2	liver:	n/a	n/a
19	MAX	chr2:86421678-86423493	A549	lung:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
20	NRF1	chr2:86421665-86423045	SK-N-SH	brain:	n/a	chr2:86422634-86422643 chr2:86422634-86422648 chr2:86422631-86422645 chr2:86422634-86422645 chr2:86422633-86422644 chr2:86422577-86422588
21	NR2F2	chr2:86421609-86423147	K562	blood:	n/a	n/a
22	SIN3A	chr2:86421682-86423063	GM12878	blood:	n/a	chr2:86421812-86421821
23	REST	chr2:86421618-86423563	H1-neurons	neurons:	n/a	chr2:86422817-86422830
24	MAX	chr2:86421572-86423531	A549	lung:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
25	POLR2A	chr2:86421615-86423357	H1-hESC	embryonic stem cell:	n/a	n/a
26	NR2F2	chr2:86421456-86423251	K562	blood:	n/a	n/a
27	IRF1	chr2:86421305-86423158	K562	blood:	n/a	chr2:86421555-86421564 chr2:86421726-86421738 chr2:86421913-86421930 chr2:86421918-86421930 chr2:86421507-86421521 chr2:86421723-86421737 chr2:86421918-86421932 chr2:86421918-86421931 chr2:86421918-86421931 chr2:86421918-86421930 chr2:86421919-86421933 chr2:86421918-86421929
28	TBL1XR1	chr2:86421455-86423097	K562	blood:	n/a	n/a
29	MYC	chr2:86421650-86423414	K562	blood:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
30	MAZ	chr2:86421530-86423279	IMR90	lung:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
31	UBTF	chr2:86421024-86423372	K562	blood:	n/a	n/a
32	SIN3AK20	chr2:86421678-86423454	MCF-7	breast:	n/a	n/a
33	STAT1	chr2:86421689-86423118	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:86420930-86423396	K562	blood:	n/a	n/a
35	PML	chr2:86421684-86423260	K562	blood:	n/a	n/a
36	REST	chr2:86421583-86423378	A549	lung:	n/a	chr2:86422817-86422830
37	SPI1	chr2:86421581-86423447	HL-60	blood:	n/a	n/a
38	POLR2A	chr2:86421429-86423273	PBDE	blood:	n/a	n/a
39	RFX5	chr2:86420697-86423562	SK-N-SH	brain:	n/a	chr2:86423175-86423190 chr2:86423174-86423191 chr2:86421537-86421551 chr2:86423175-86423190
40	PML	chr2:86421671-86423338	K562	blood:	n/a	n/a
41	MXI1	chr2:86420901-86423531	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr2:86421448-86421709	Hela-S3	cervix:	n/a	n/a
43	MYBL2	chr2:86421548-86423393	HepG2	liver:	n/a	n/a
44	MAX	chr2:86421604-86423114	GM12878	blood:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
45	TBP	chr2:86421619-86423274	K562	blood:	n/a	n/a
46	ZNF143	chr2:86421015-86422989	K562	blood:	n/a	chr2:86422090-86422099 chr2:86422092-86422101
47	MXI1	chr2:86421393-86423364	IMR90	lung:	n/a	n/a
48	HCFC1	chr2:86421164-86423537	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr2:86421108-86423990	HepG2	liver:	n/a	n/a
50	MAX	chr2:86421494-86423498	HCT-116	colon:	n/a	chr2:86422853-86422862 chr2:86422854-86422861

No.	Distal block	Cell Line	Cell type
1	chr2:86332345..86334570-chr2:86419598..86423755,4	MCF-7	breast:
2	chr2:86398980..86401652-chr2:86420774..86422629,2	K562	blood:
3	chr2:86421282..86424146-chr2:86666466..86669906,3	K562	blood:
4	chr2:86359004..86362633-chr2:86421083..86423832,3	MCF-7	breast:
5	chr2:86329731..86334667-chr2:86420655..86424478,8	K562	blood:
6	chr2:86421023..86423048-chr2:86667398..86669941,4	MCF-7	breast:
7	chr2:86420213..86424453-chr2:86424933..86430971,16	MCF-7	breast:
8	chr2:86330519..86334714-chr2:86420374..86424108,6	K562	blood:

Variant related genes	Relation type
ENSG00000273080	TF binding region
MIR4779	TF binding region
MRPL35	TF binding region
ENSG00000132300	Chromatin interaction
ENSG00000068654	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000132313	Chromatin interaction
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10170676	0.87[EUR][1000 genomes]
rs10175330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10184246	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10184462	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs10187150	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10188059	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10195199	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs10200018	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10202995	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10208602	0.92[EUR][1000 genomes]
rs10496318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1057893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10901	0.92[EUR][1000 genomes]
rs1124686	0.81[ASN][1000 genomes]
rs11395	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs11884038	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11885380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897696	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11899254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151585	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12328100	0.93[JPT][hapmap]
rs12465983	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12469363	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12469762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12475079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12478097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12478369	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714167	0.81[EUR][1000 genomes]
rs12714169	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12714170	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12714171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714173	0.92[EUR][1000 genomes]
rs12714174	0.92[EUR][1000 genomes]
rs12714175	0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs12714177	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs12714178	0.81[EUR][1000 genomes]
rs12994382	0.93[EUR][1000 genomes]
rs12996308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998025	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12998164	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13001470	0.89[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes]
rs13007807	0.83[EUR][1000 genomes]
rs13010906	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13011139	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13011498	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13013916	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13018652	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13019073	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13024123	1.00[CHB][hapmap]
rs13024884	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13027248	0.93[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes]
rs13028023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs13035593	0.92[EUR][1000 genomes]
rs13403186	0.83[CEU][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1424522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1540391	0.85[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs17027013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17551815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17551822	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2241438	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278536	1.00[CHB][hapmap]
rs2288113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288114	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34263823	0.90[EUR][1000 genomes]
rs35615768	0.93[EUR][1000 genomes]
rs3770060	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770061	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3821017	0.85[CEU][hapmap]
rs4374375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569473	0.83[EUR][1000 genomes]
rs62150072	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62150074	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547660	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6547661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547662	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547663	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547665	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs6706204	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6707029	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6719136	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6729732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6730226	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6731535	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6731995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735014	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6737950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6740044	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6740287	0.95[EUR][1000 genomes]
rs6740666	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6747474	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6749090	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6749439	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6757387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs715334	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7422930	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs7560376	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs7561589	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7563742	0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs7566721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566961	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569853	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7572386	1.00[CHB][hapmap]
rs7588325	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7590445	0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs7608547	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7609008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8244	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs876242	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9309632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646999	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9653508	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9653569	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789526	0.91[EUR][1000 genomes]
rs9808316	0.89[EUR][1000 genomes]
rs9917140	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9973320	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12714172	IMMT	cis	Whole Blood	GTEx
rs12714172	MRPL35	cis	uninvolved skin	skin_eQTL
rs12714172	IMMT	cis	Esophagus Muscularis	GTEx
rs12714172	IMMT	cis	Artery Aorta	GTEx
rs12714172	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs12714172	IMMT	cis	lung	GTEx
rs12714172	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs12714172	IMMT	cis	Esophagus Mucosa	GTEx
rs12714172	IMMT	cis	Lymphoblastoid	GTEx
rs12714172	IMMT	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86418800-86421800	Weak transcription	Lung	lung
2	chr2:86419200-86422000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:86420400-86422000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr2:86420600-86422000	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr2:86420600-86422000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr2:86420800-86421800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:86420800-86421800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:86420800-86421800	Flanking Active TSS	NH-A	brain
9	chr2:86420800-86421800	Flanking Active TSS	NHLF	lung
10	chr2:86420800-86422000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:86420800-86422000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr2:86421000-86421800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:86421000-86421800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:86421000-86421800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:86421000-86421800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr2:86421000-86421800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:86421000-86421800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:86421000-86421800	Enhancers	Small Intestine	intestine
19	chr2:86421000-86421800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr2:86421000-86421800	Enhancers	Spleen	Spleen
21	chr2:86421000-86421800	Flanking Active TSS	HMEC	breast
22	chr2:86421000-86421800	Flanking Active TSS	Osteobl	bone
23	chr2:86421000-86422000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:86421000-86422000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr2:86421000-86422000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr2:86421000-86422000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:86421000-86422000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:86421000-86422000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:86421000-86422000	Flanking Active TSS	Fetal Heart	heart
30	chr2:86421000-86422000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr2:86421000-86422000	Flanking Active TSS	Hela-S3	cervix
32	chr2:86421000-86423600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr2:86421200-86421800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:86421200-86421800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:86421200-86421800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:86421200-86421800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr2:86421200-86421800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr2:86421200-86421800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:86421200-86421800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:86421200-86421800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr2:86421200-86421800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr2:86421200-86421800	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr2:86421200-86421800	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr2:86421200-86421800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr2:86421200-86421800	Flanking Active TSS	Fetal Brain Male	brain
46	chr2:86421200-86421800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr2:86421200-86421800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr2:86421200-86421800	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr2:86421200-86422000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr2:86421200-86422000	Flanking Active TSS	Primary B cells from cord blood	blood

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