Variant report

Variant	rs4544439
Chromosome Location	chr2:86423224-86423225
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	GATA3	chr2:86421843-86423267	A549	lung:	n/a	n/a
2	POLR2A	chr2:86421910-86423440	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr2:86421806-86423411	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:86421138-86423364	K562	blood:	n/a	n/a
5	POLR2A	chr2:86421837-86423362	HepG2	liver:	n/a	n/a
6	SPI1	chr2:86423093-86423295	K562	blood:	n/a	n/a
7	POLR2A	chr2:86421907-86423260	GM18951	blood:	n/a	n/a
8	MBD4	chr2:86421678-86423364	HepG2	liver:	n/a	n/a
9	USF1	chr2:86422445-86423371	A549	lung:	n/a	n/a
10	CHD2	chr2:86421633-86423250	K562	blood:	n/a	chr2:86422993-86423000
11	EP300	chr2:86421724-86423274	K562	blood:	n/a	chr2:86422251-86422267
12	POLR2A	chr2:86421879-86423294	Hela-S3	cervix:	n/a	n/a
13	MYC	chr2:86422053-86423303	HepG2	liver:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
14	POLR2A	chr2:86421780-86423416	U87	brain:	n/a	n/a
15	POLR2A	chr2:86421887-86423362	GM18526	blood:	n/a	n/a
16	POLR2A	chr2:86421898-86423288	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:86421190-86423360	K562	blood:	n/a	n/a
18	TCF12	chr2:86421622-86423467	A549	lung:	n/a	n/a
19	POLR2A	chr2:86421894-86423412	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr2:86421786-86423358	Raji	blood:	n/a	n/a
21	POLR2A	chr2:86421148-86423363	K562	blood:	n/a	n/a
22	POLR2A	chr2:86421835-86423503	HL-60	blood:	n/a	n/a
23	MYC	chr2:86421870-86423259	NB4	blood:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
24	CHD1	chr2:86420878-86423375	IMR90	lung:	n/a	chr2:86422993-86423000
25	POLR2A	chr2:86421876-86423396	HCT-116	colon:	n/a	n/a
26	KAP1	chr2:86421935-86423232	HEK293	kidney:	n/a	n/a
27	TCF12	chr2:86421787-86423249	ECC-1	luminal epithelium:	n/a	n/a
28	BHLHE40	chr2:86421927-86423275	HepG2	liver:	n/a	n/a
29	MAX	chr2:86421818-86423344	ECC-1	luminal epithelium:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
30	POLR2A	chr2:86421922-86423232	HUVEC	blood vessel:	n/a	n/a
31	SMC3	chr2:86421943-86423233	Hela-S3	cervix:	n/a	chr2:86422302-86422309
32	MAX	chr2:86421846-86423296	MCF-7	breast:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
33	MYC	chr2:86421772-86423290	K562	blood:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
34	CREB1	chr2:86421747-86423498	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:86421891-86423324	GM19099	blood:	n/a	n/a
36	RPC155	chr2:86422896-86424004	Hela-S3	cervix:	n/a	n/a
37	TAL1	chr2:86421282-86423247	K562	blood:	n/a	n/a
38	BCL3	chr2:86422184-86423336	A549	lung:	n/a	n/a
39	POLR2A	chr2:86421668-86423367	IMR90	lung:	n/a	n/a
40	TRIM28	chr2:86421847-86423246	K562	blood:	n/a	n/a
41	STAT5A	chr2:86422061-86423246	K562	blood:	n/a	n/a
42	ETS1	chr2:86421822-86423250	K562	blood:	n/a	chr2:86422611-86422620 chr2:86422611-86422620 chr2:86422611-86422620 chr2:86422608-86422621 chr2:86422090-86422103 chr2:86422089-86422102 chr2:86422611-86422620 chr2:86422611-86422620 chr2:86422611-86422620
43	GTF3C2	chr2:86422834-86423551	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr2:86421789-86423270	Hela-S3	cervix:	n/a	n/a
45	SIX5	chr2:86421707-86423479	A549	lung:	n/a	chr2:86422092-86422101 chr2:86422090-86422099 chr2:86422089-86422103
46	POLR2A	chr2:86421851-86423588	K562	blood:	n/a	n/a
47	POLR2A	chr2:86421824-86423410	GM12878	blood:	n/a	n/a
48	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
49	POLR2A	chr2:86421725-86423406	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr2:86421614-86423413	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	chr2:86421282..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
IMMT	TF binding region
MIR4779	TF binding region
MRPL35	TF binding region
ENSG00000200241	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000132300	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000068654	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000132313	Chromatin interaction
ENSG00000068615	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10170676	0.87[EUR][1000 genomes]
rs10175330	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][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	0.91[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	0.84[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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][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];1.00[MEX][hapmap];0.83[TSI][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];0.96[CHD][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[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][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	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs12714177	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs12714178	0.81[EUR][1000 genomes]
rs12994382	0.93[EUR][1000 genomes]
rs12996308	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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	0.88[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	0.92[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];0.86[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[CHD][hapmap];0.89[TSI][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];0.81[CHD][hapmap];0.86[TSI][hapmap]
rs2288113	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs3770059	0.81[CHD][hapmap]
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];0.83[GIH][hapmap]
rs4374375	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
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];0.88[CHD][hapmap];0.93[GIH][hapmap];0.93[TSI][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];0.93[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]
rs6725046	0.83[GIH][hapmap]
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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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];0.92[CHD][hapmap];0.89[TSI][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];0.81[CHD][hapmap];0.82[TSI][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];0.85[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][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[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7422930	0.85[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs7560376	0.92[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	0.92[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	0.81[CEU][hapmap];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	0.92[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[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][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[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]
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];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][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:18)

SNP	Gene	Cis/trans	Tissue	Source
rs4544439	IMMT	cis	multi-tissue	Pritchard
rs4544439	IMMT	cis	Artery Aorta	GTEx
rs4544439	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs4544439	IMMT	cis	Lymphoblastoid	GTEx
rs4544439	REEP1	cis	parietal	SCAN
rs4544439	POLR1A	cis	parietal	SCAN
rs4544439	MRPL35	cis	lymphoblastoid	seeQTL
rs4544439	IMMT	cis	Whole Blood	GTEx
rs4544439	MRPL35	cis	uninvolved skin	skin_eQTL
rs4544439	IMMT	cis	parietal	SCAN
rs4544439	IMMT	cis	lung	GTEx
rs4544439	IMMT	cis	cerebellum	SCAN
rs4544439	IMMT	cis	lymphoblastoid	seeQTL
rs4544439	MRPL35	cis	cerebellum	SCAN
rs4544439	MRPL35	cis	parietal	SCAN
rs4544439	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs4544439	IMMT	cis	Esophagus Mucosa	GTEx
rs4544439	IMMT	cis	Esophagus Muscularis	GTEx

Chromatin state (count:127 , 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	chr2:86421200-86423400	Active TSS	Aorta	Aorta
3	chr2:86421400-86423400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:86421400-86423400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:86421400-86423400	Active TSS	Right Ventricle	heart
6	chr2:86421400-86424000	Active TSS	K562	blood
7	chr2:86421600-86423400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:86421600-86423400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:86421600-86423400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:86421600-86423400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:86421600-86423400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:86421600-86423400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:86421600-86423400	Active TSS	Psoas Muscle	Psoas
14	chr2:86421600-86423400	Active TSS	NHDF-Ad	bronchial
15	chr2:86421600-86423600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:86421600-86423600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:86421600-86423600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:86421600-86423600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:86421600-86423600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:86421600-86423600	Active TSS	A549	lung
21	chr2:86421600-86423800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:86421600-86423800	Active TSS	HSMM	muscle
23	chr2:86421800-86423400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:86421800-86423400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:86421800-86423400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:86421800-86423400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:86421800-86423400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:86421800-86423400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:86421800-86423400	Active TSS	Fetal Kidney	kidney
30	chr2:86421800-86423400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:86421800-86423400	Active TSS	NHLF	lung
32	chr2:86421800-86423600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr2:86421800-86423600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:86422000-86423400	Active TSS	Primary T cells from cord blood	blood
35	chr2:86422000-86423400	Active TSS	Fetal Brain Female	brain
36	chr2:86422400-86423600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:86422600-86423400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:86422600-86423400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr2:86422600-86423800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:86422800-86423400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr2:86422800-86423400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr2:86422800-86423400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr2:86422800-86423400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:86422800-86423400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:86422800-86423400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:86422800-86423400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr2:86422800-86423400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr2:86422800-86423400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr2:86422800-86423400	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr2:86422800-86423400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links