Variant report

Variant	rs9309633
Chromosome Location	chr2:86423401-86423402
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	chr2:86421910-86423440	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr2:86421806-86423411	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:86421780-86423416	U87	brain:	n/a	n/a
4	TCF12	chr2:86421622-86423467	A549	lung:	n/a	n/a
5	POLR2A	chr2:86421894-86423412	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr2:86421835-86423503	HL-60	blood:	n/a	n/a
7	CREB1	chr2:86421747-86423498	HepG2	liver:	n/a	n/a
8	RPC155	chr2:86422896-86424004	Hela-S3	cervix:	n/a	n/a
9	GTF3C2	chr2:86422834-86423551	Hela-S3	cervix:	n/a	n/a
10	SIX5	chr2:86421707-86423479	A549	lung:	n/a	chr2:86422092-86422101 chr2:86422090-86422099 chr2:86422089-86422103
11	POLR2A	chr2:86421851-86423588	K562	blood:	n/a	n/a
12	POLR2A	chr2:86421824-86423410	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:86421725-86423406	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr2:86421614-86423413	K562	blood:	n/a	n/a
15	MAX	chr2:86421736-86423419	K562	blood:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
16	JUND	chr2:86423322-86423552	K562	blood:	n/a	chr2:86423436-86423447
17	HEY1	chr2:86421787-86423423	K562	blood:	n/a	n/a
18	MAX	chr2:86421942-86423448	Hela-S3	cervix:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
19	POLR2A	chr2:86421811-86423416	Hela-S3	cervix:	n/a	n/a
20	MTA3	chr2:86421765-86423407	GM12878	blood:	n/a	n/a
21	MAX	chr2:86421743-86423523	HepG2	liver:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
22	HEY1	chr2:86421887-86423433	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:86421714-86423548	SK-N-MC	brain:	n/a	n/a
24	MYBL2	chr2:86421665-86423531	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:86421950-86423410	GM12878	blood:	n/a	n/a
26	HEY1	chr2:86421830-86423514	HepG2	liver:	n/a	n/a
27	MAX	chr2:86421678-86423493	A549	lung:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
28	POLR2A	chr2:86421791-86423481	U87	brain:	n/a	n/a
29	POLR2A	chr2:86421916-86423452	GM19193	blood:	n/a	n/a
30	MAX	chr2:86421796-86423414	HepG2	liver:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
31	MYC	chr2:86421713-86423517	A549	lung:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
32	POLR2A	chr2:86421748-86423530	GM12892	blood:	n/a	n/a
33	POLR2A	chr2:86421766-86423475	HepG2	liver:	n/a	n/a
34	REST	chr2:86421618-86423563	H1-neurons	neurons:	n/a	chr2:86422817-86422830
35	MAX	chr2:86421572-86423531	A549	lung:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
36	POLR2A	chr2:86421830-86423406	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr2:86421955-86423415	HUVEC	blood vessel:	n/a	n/a
38	TCF7L2	chr2:86421853-86423440	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr2:86421780-86423462	U87	brain:	n/a	n/a
40	POLR2A	chr2:86421770-86423429	GM12892	blood:	n/a	n/a
41	SMARCB1	chr2:86422000-86423440	Hela-S3	cervix:	n/a	chr2:86422092-86422101
42	POLR2A	chr2:86421901-86423403	HEK293	kidney:	n/a	n/a
43	POLR2A	chr2:86421736-86423519	GM12892	blood:	n/a	n/a
44	MAX	chr2:86421720-86423420	ECC-1	luminal epithelium:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
45	FOS	chr2:86423362-86423562	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:86421791-86423411	U87	brain:	n/a	n/a
47	MAX	chr2:86421781-86423417	HCT-116	colon:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
48	MYC	chr2:86421650-86423414	K562	blood:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
49	GABPA	chr2:86421713-86423425	A549	lung:	n/a	chr2:86422634-86422643 chr2:86422634-86422648 chr2:86422631-86422645 chr2:86422634-86422645
50	GABPA	chr2:86421716-86423507	A549	lung:	n/a	chr2:86422634-86422643 chr2:86422634-86422648 chr2:86422631-86422645 chr2:86422634-86422645

No.	Distal block	Cell Line	Cell type
1	chr2:86332345..86334570-chr2:86419598..86423755,4	MCF-7	breast:
2	chr2:86421282..86424146-chr2:86666466..86669906,3	K562	blood:
3	chr2:86347535..86349884-chr2:86422293..86424196,2	MCF-7	breast:
4	chr2:86421987..86423753-chr2:86668406..86670239,2	K562	blood:
5	chr2:86359004..86362633-chr2:86421083..86423832,3	MCF-7	breast:
6	chr2:86329731..86334667-chr2:86420655..86424478,8	K562	blood:
7	chr2:86422281..86424225-chr4:1209194..1210696,2	K562	blood:
8	chr2:86422237..86423747-chr2:86562559..86564958,2	MCF-7	breast:
9	chr2:86385390..86388017-chr2:86422133..86423833,2	MCF-7	breast:
10	chr2:86398317..86400086-chr2:86422606..86424592,2	MCF-7	breast:
11	chr2:86420213..86424453-chr2:86424933..86430971,16	MCF-7	breast:
12	chr2:86330519..86334714-chr2:86420374..86424108,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL35-1	chr2:86422896-86423798	NONHSAT072098

Variant related genes	Relation type
MIR4779	TF binding region
IMMT	TF binding region
MRPL35	TF binding region
ENSG00000132313	Chromatin interaction
ENSG00000068615	Chromatin interaction
ENSG00000132300	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000200241	Chromatin interaction
ENSG00000068654	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10170676	0.86[EUR][1000 genomes]
rs10175330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10184246	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10184462	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs10187150	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10188059	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10195199	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs10200018	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10202995	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10208602	0.91[EUR][1000 genomes]
rs10496318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1057893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.94[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];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11884038	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];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897696	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11899254	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]
rs11900161	0.81[CEU][hapmap]
rs12151585	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12328100	0.82[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap]
rs12465983	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12469363	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12469762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[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];0.88[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];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[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];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12478369	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714167	0.82[EUR][1000 genomes]
rs12714169	0.82[EUR][1000 genomes]
rs12714170	0.85[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];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714172	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]
rs12714173	0.91[EUR][1000 genomes]
rs12714174	0.92[EUR][1000 genomes]
rs12714175	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs12714177	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs12714178	0.82[EUR][1000 genomes]
rs12994382	0.93[EUR][1000 genomes]
rs12996308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998025	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12998164	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13001470	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes]
rs13007807	0.83[EUR][1000 genomes]
rs13010906	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13011139	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13011498	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13013916	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13018652	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13019073	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13024123	1.00[CHB][hapmap]
rs13024884	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13027248	0.96[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	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1424522	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1540391	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs17027013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17551815	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17551822	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2241438	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278536	1.00[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap]
rs2288113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288114	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34263823	0.91[EUR][1000 genomes]
rs35615768	0.93[EUR][1000 genomes]
rs3770059	0.81[CHD][hapmap]
rs3770060	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770061	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[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];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3821017	0.85[CEU][hapmap]
rs4374375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4402761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4422155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569473	0.82[EUR][1000 genomes]
rs62150072	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62150074	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547660	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6547661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547662	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547663	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547665	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs6706204	0.84[EUR][1000 genomes]
rs6707029	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6713309	0.86[YRI][hapmap]
rs6719136	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725046	0.81[CEU][hapmap]
rs6725372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6729732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6730226	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6731535	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6731995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735014	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap]
rs6737950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6740044	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap]
rs6740287	0.94[EUR][1000 genomes]
rs6740666	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6747474	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6749090	0.89[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6749439	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6757387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs715334	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7422930	0.88[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs7560376	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs7561589	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7563742	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs7566721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566961	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569853	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7572386	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs7588325	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7590445	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[EUR][1000 genomes]
rs7608547	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7609008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.91[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];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs876242	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9309632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646999	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9653508	0.89[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9653569	0.96[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]
rs9789526	0.90[EUR][1000 genomes]
rs9808316	0.88[EUR][1000 genomes]
rs9917140	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9973320	0.89[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:17)

SNP	Gene	Cis/trans	Tissue	Source
rs9309633	MRPL35	cis	parietal	SCAN
rs9309633	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs9309633	IMMT	cis	Skin Sun Exposed Lower leg	GTEx
rs9309633	IMMT	cis	lung	GTEx
rs9309633	IMMT	cis	Esophagus Muscularis	GTEx
rs9309633	IMMT	cis	Whole Blood	GTEx
rs9309633	MRPL35	cis	cerebellum	SCAN
rs9309633	IMMT	cis	Artery Aorta	GTEx
rs9309633	POLR1A	cis	parietal	SCAN
rs9309633	IMMT	cis	multi-tissue	Pritchard
rs9309633	IMMT	cis	parietal	SCAN
rs9309633	IMMT	cis	cerebellum	SCAN
rs9309633	REEP1	cis	parietal	SCAN
rs9309633	IMMT	cis	lymphoblastoid	seeQTL
rs9309633	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs9309633	IMMT	cis	Esophagus Mucosa	GTEx
rs9309633	MRPL35	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86421000-86423600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr2:86421400-86424000	Active TSS	K562	blood
3	chr2:86421600-86423600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:86421600-86423600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:86421600-86423600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:86421600-86423600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:86421600-86423600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:86421600-86423600	Active TSS	A549	lung
9	chr2:86421600-86423800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:86421600-86423800	Active TSS	HSMM	muscle
11	chr2:86421800-86423600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr2:86421800-86423600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:86422400-86423600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:86422600-86423800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:86422800-86423600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:86422800-86423600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:86422800-86423800	Flanking Active TSS	Hela-S3	cervix
18	chr2:86423000-86423600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr2:86423000-86423600	Active TSS	Brain Germinal Matrix	brain
20	chr2:86423000-86423600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr2:86423000-86423600	Flanking Active TSS	GM12878-XiMat	blood
22	chr2:86423000-86423600	Flanking Active TSS	HMEC	breast
23	chr2:86423000-86424400	Flanking Active TSS	Dnd41	blood
24	chr2:86423200-86423600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:86423200-86423600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:86423200-86423800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:86423200-86423800	Enhancers	Fetal Brain Male	brain
28	chr2:86423200-86423800	Active TSS	HepG2	liver
29	chr2:86423200-86425800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:86423200-86426200	Weak transcription	Ovary	ovary
31	chr2:86423400-86423600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:86423400-86423600	Enhancers	Primary B cells from cord blood	blood
33	chr2:86423400-86423600	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:86423400-86423600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:86423400-86423600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:86423400-86423600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:86423400-86423600	Enhancers	Brain Hippocampus Middle	brain
38	chr2:86423400-86423600	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:86423400-86423600	Enhancers	Fetal Muscle Leg	muscle
40	chr2:86423400-86423600	Enhancers	Fetal Thymus	thymus
41	chr2:86423400-86423600	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:86423400-86423600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:86423400-86423600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr2:86423400-86423800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:86423400-86423800	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:86423400-86423800	Weak transcription	Fetal Brain Female	brain
47	chr2:86423400-86424000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:86423400-86424000	Weak transcription	Psoas Muscle	Psoas
49	chr2:86423400-86424000	Enhancers	Osteobl	bone
50	chr2:86423400-86424200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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