Variant report

Variant	rs11899254
Chromosome Location	chr2:86421507-86421508
allele	A/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	POLR2A	chr2:86421138-86423364	K562	blood:	n/a	n/a
2	ZC3H11A	chr2:86421463-86422696	K562	blood:	n/a	n/a
3	POLR2A	chr2:86421190-86423360	K562	blood:	n/a	n/a
4	POLR2A	chr2:86421148-86423363	K562	blood:	n/a	n/a
5	CHD1	chr2:86420878-86423375	IMR90	lung:	n/a	chr2:86422993-86423000
6	TAL1	chr2:86421282-86423247	K562	blood:	n/a	n/a
7	POLR2A	chr2:86421315-86421515	GM12878	blood:	n/a	n/a
8	NR2F2	chr2:86421456-86423251	K562	blood:	n/a	n/a
9	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
10	TBL1XR1	chr2:86421455-86423097	K562	blood:	n/a	n/a
11	UBTF	chr2:86421024-86423372	K562	blood:	n/a	n/a
12	POLR2A	chr2:86420930-86423396	K562	blood:	n/a	n/a
13	POLR2A	chr2:86421429-86423273	PBDE	blood:	n/a	n/a
14	RFX5	chr2:86420697-86423562	SK-N-SH	brain:	n/a	chr2:86423175-86423190 chr2:86423174-86423191 chr2:86421537-86421551 chr2:86423175-86423190
15	MXI1	chr2:86420901-86423531	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr2:86421448-86421709	Hela-S3	cervix:	n/a	n/a
17	ZNF143	chr2:86421015-86422989	K562	blood:	n/a	chr2:86422090-86422099 chr2:86422092-86422101
18	MXI1	chr2:86421393-86423364	IMR90	lung:	n/a	n/a
19	HCFC1	chr2:86421164-86423537	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr2:86421108-86423990	HepG2	liver:	n/a	n/a
21	MAX	chr2:86421494-86423498	HCT-116	colon:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
22	RCOR1	chr2:86421161-86423369	K562	blood:	n/a	n/a
23	POLR2A	chr2:86421250-86423411	GM12891	blood:	n/a	n/a
24	TEAD4	chr2:86420946-86423266	K562	blood:	n/a	n/a
25	TBL1XR1	chr2:86420899-86423275	K562	blood:	n/a	n/a

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
MIR4779	TF binding region
ENSG00000273080	TF binding region
MRPL35	TF binding region
ENSG00000132300	Chromatin interaction
ENSG00000068654	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000132313	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]
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]
rs12714172	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]
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
rs11899254	IMMT	cis	Esophagus Muscularis	GTEx
rs11899254	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs11899254	MRPL35	cis	uninvolved skin	skin_eQTL
rs11899254	IMMT	cis	Artery Aorta	GTEx
rs11899254	IMMT	cis	multi-tissue	Pritchard
rs11899254	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs11899254	IMMT	cis	lung	GTEx
rs11899254	IMMT	cis	Esophagus Mucosa	GTEx
rs11899254	IMMT	cis	Whole Blood	GTEx
rs11899254	IMMT	cis	Lymphoblastoid	GTEx

Chromatin state (count:125 , 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	chr2:86420400-86421600	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:86420400-86421600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:86420400-86422000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr2:86420600-86422000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr2:86420600-86422000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr2:86420800-86421600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:86420800-86421600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:86420800-86421600	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:86420800-86421600	Enhancers	Esophagus	oesophagus
12	chr2:86420800-86421600	Flanking Active TSS	Psoas Muscle	Psoas
13	chr2:86420800-86421600	Flanking Active TSS	A549	lung
14	chr2:86420800-86421800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:86420800-86421800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:86420800-86421800	Flanking Active TSS	NH-A	brain
17	chr2:86420800-86421800	Flanking Active TSS	NHLF	lung
18	chr2:86420800-86422000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:86420800-86422000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr2:86421000-86421600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:86421000-86421600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:86421000-86421600	Enhancers	Fetal Intestine Large	intestine
23	chr2:86421000-86421600	Enhancers	Gastric	stomach
24	chr2:86421000-86421600	Enhancers	Pancreas	Pancrea
25	chr2:86421000-86421600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:86421000-86421600	Flanking Active TSS	HepG2	liver
27	chr2:86421000-86421600	Flanking Active TSS	NHDF-Ad	bronchial
28	chr2:86421000-86421600	Flanking Active TSS	NHEK	skin
29	chr2:86421000-86421800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:86421000-86421800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr2:86421000-86421800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:86421000-86421800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr2:86421000-86421800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:86421000-86421800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:86421000-86421800	Enhancers	Small Intestine	intestine
36	chr2:86421000-86421800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr2:86421000-86421800	Enhancers	Spleen	Spleen
38	chr2:86421000-86421800	Flanking Active TSS	HMEC	breast
39	chr2:86421000-86421800	Flanking Active TSS	Osteobl	bone
40	chr2:86421000-86422000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:86421000-86422000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr2:86421000-86422000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:86421000-86422000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:86421000-86422000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:86421000-86422000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:86421000-86422000	Flanking Active TSS	Fetal Heart	heart
47	chr2:86421000-86422000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr2:86421000-86422000	Flanking Active TSS	Hela-S3	cervix
49	chr2:86421000-86423600	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:86421200-86421600	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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