Variant report

Variant	rs3742969
Chromosome Location	chr15:43621947-43621948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:43621774-43623049	K562	blood:	n/a	n/a
2	HEY1	chr15:43621897-43623192	K562	blood:	n/a	n/a
3	SREBP2	chr15:43621854-43623679	GM12878	blood:	n/a	n/a
4	CREB1	chr15:43621724-43623112	H1-hESC	embryonic stem cell:	n/a	n/a
5	CREB1	chr15:43621793-43623204	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr15:43621831-43622128	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:43620770-43623194	K562	blood:	n/a	n/a
8	POLR2A	chr15:43621900-43623162	HEK293	kidney:	n/a	n/a
9	REST	chr15:43621406-43623418	H1-neurons	neurons:	n/a	chr15:43623129-43623143
10	RUNX3	chr15:43621857-43623193	GM12878	blood:	n/a	n/a
11	TBP	chr15:43621635-43623291	K562	blood:	n/a	n/a
12	HMGN3	chr15:43621837-43622798	K562	blood:	n/a	n/a
13	MAX	chr15:43621854-43623251	HepG2	liver:	n/a	n/a
14	PML	chr15:43621649-43623269	GM12878	blood:	n/a	n/a
15	MAX	chr15:43621880-43623238	ECC-1	luminal epithelium:	n/a	n/a
16	MYC	chr15:43621869-43623350	K562	blood:	n/a	n/a
17	MAX	chr15:43621693-43623301	A549	lung:	n/a	n/a
18	SIN3AK20	chr15:43621669-43623226	MCF-7	breast:	n/a	n/a
19	BHLHE40	chr15:43621915-43622007	K562	blood:	n/a	n/a
20	MAX	chr15:43621914-43623175	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:43621709-43623279	GM12878	blood:	n/a	n/a
22	SMARCB1	chr15:43621734-43623261	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr15:43621945-43623291	GM18951	blood:	n/a	n/a
24	POLR2A	chr15:43618471-43623574	GM12891	blood:	n/a	n/a
25	POLR2A	chr15:43621909-43623147	MCF-7	breast:	n/a	n/a
26	TEAD4	chr15:43621846-43623280	K562	blood:	n/a	n/a
27	POLR2A	chr15:43621885-43623078	GM12892	blood:	n/a	n/a
28	MAX	chr15:43621844-43623229	HepG2	liver:	n/a	n/a
29	POLR2A	chr15:43621772-43623275	MCF10A-Er-Src	breast:	n/a	n/a
30	HCFC1	chr15:43621557-43623776	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr15:43621816-43623189	K562	blood:	n/a	n/a
32	GABPA	chr15:43621924-43623034	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr15:43621833-43623207	ECC-1	luminal epithelium:	n/a	n/a
34	MXI1	chr15:43621081-43623439	SK-N-SH	brain:	n/a	n/a
35	MAX	chr15:43621825-43623200	SK-N-SH	brain:	n/a	n/a
36	MYC	chr15:43621873-43622933	MCF-7	breast:	n/a	n/a
37	POLR2A	chr15:43621827-43623117	H1-hESC	embryonic stem cell:	n/a	n/a
38	CCNT2	chr15:43621909-43622840	K562	blood:	n/a	n/a
39	CTCF	chr15:43621820-43621970	AG04449	skin:	n/a	n/a
40	ELF1	chr15:43621798-43623116	GM12878	blood:	n/a	chr15:43622797-43622808 chr15:43622825-43622836 chr15:43622826-43622835 chr15:43622825-43622836
41	E2F6	chr15:43621852-43623179	A549	lung:	n/a	n/a
42	POLR2A	chr15:43621691-43623175	MCF-7	breast:	n/a	n/a
43	UBTF	chr15:43621412-43623253	K562	blood:	n/a	n/a
44	POLR2A	chr15:43621885-43623352	HepG2	liver:	n/a	n/a
45	MAX	chr15:43621816-43622976	HUVEC	blood vessel:	n/a	n/a
46	USF2	chr15:43621164-43622065	Hela-S3	cervix:	n/a	n/a
47	PML	chr15:43621929-43623174	K562	blood:	n/a	n/a
48	MAX	chr15:43621773-43623212	A549	lung:	n/a	n/a
49	POLR2A	chr15:43621816-43623188	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr15:43617884-43623229	Hela-S3	cervix:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:43397435..43400079-chr15:43619938..43624138,3	K562	blood:
2	chr15:43621803..43624734-chr15:43667473..43669999,2	K562	blood:
3	chr15:43620224..43622600-chr15:43663902..43665478,2	MCF-7	breast:
4	chr15:43620805..43624764-chr15:43626235..43634573,14	K562	blood:
5	chr15:43476272..43478901-chr15:43620777..43622927,4	K562	blood:
6	chr15:43621078..43623590-chr15:43801793..43804270,2	MCF-7	breast:
7	chr15:43476610..43478211-chr15:43620895..43622509,2	K562	blood:
8	chr15:43618581..43624264-chr15:43661265..43664929,7	MCF-7	breast:
9	chr15:43621444..43623700-chr15:43661759..43663409,2	MCF-7	breast:
10	chr15:43619535..43624096-chr15:43662038..43665421,4	K562	blood:
11	chr15:43621834..43622636-chr5:81267421..81268117,2	Hela-S3	cervix:
12	chr15:43621044..43624825-chr15:43626235..43637209,16	K562	blood:
13	chr15:43500155..43503014-chr15:43621772..43625357,3	K562	blood:
14	chr15:43571338..43574214-chr15:43618657..43622685,4	K562	blood:
15	chr15:43620486..43624109-chr15:43661175..43665421,4	K562	blood:
16	chr15:43479061..43481710-chr15:43621878..43623729,2	K562	blood:
17	chr15:43512947..43514821-chr15:43621121..43624112,2	K562	blood:

No data

Variant related genes	Relation type
ADAL	TF binding region
ENSG00000140265	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000261687	Chromatin interaction
ENSG00000159459	Chromatin interaction
ENSG00000166946	Chromatin interaction
ENSG00000166947	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000152348	Chromatin interaction
ENSG00000166963	Chromatin interaction
ENSG00000137822	Chromatin interaction

Extended variants
information (count: 158 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs1095386	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[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11070399	0.99[ASN][1000 genomes]
rs1123947	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1133395	0.99[ASN][1000 genomes]
rs11637572	0.86[CHB][hapmap]
rs11858152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12101673	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12102205	0.99[ASN][1000 genomes]
rs12148735	0.88[ASN][1000 genomes]
rs12323999	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12324572	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12324584	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12440854	0.89[EUR][1000 genomes]
rs12905772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1549523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549525	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16957627	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16957630	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16957632	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1814538	0.88[CEU][hapmap];0.80[GIH][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap]
rs1837959	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs1837960	0.80[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.81[MEX][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2012467	0.88[ASN][1000 genomes]
rs2242068	0.83[ASN][1000 genomes]
rs2242069	0.80[ASW][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap]
rs2243434	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2244746	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2245664	0.80[AMR][1000 genomes]
rs2245715	0.86[MEX][hapmap];0.91[TSI][hapmap]
rs2245908	0.80[AMR][1000 genomes]
rs2253708	0.88[CEU][hapmap];0.95[YRI][hapmap]
rs2254321	0.82[AMR][1000 genomes]
rs2254325	0.82[AMR][1000 genomes]
rs2264876	0.83[GIH][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap]
rs2278856	0.99[ASN][1000 genomes]
rs2278857	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2278858	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2278859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2278860	0.93[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412778	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412779	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412780	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2412781	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2412782	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2439831	0.88[CEU][hapmap];0.80[GIH][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap]
rs2439832	0.83[GIH][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap]
rs2439841	0.82[AMR][1000 genomes]
rs2439850	0.86[CEU][hapmap]
rs2444028	0.80[AMR][1000 genomes]
rs2444029	0.80[AMR][1000 genomes]
rs2444032	0.88[CEU][hapmap];0.80[GIH][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap]
rs2444036	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2444247	0.80[AMR][1000 genomes]
rs2444250	0.88[CEU][hapmap]
rs2467733	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2467736	0.88[CEU][hapmap];0.80[GIH][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap]
rs2467739	0.88[CEU][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap]
rs2584700	0.82[ASN][1000 genomes]
rs2584701	0.91[ASN][1000 genomes]
rs2584702	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2584703	0.85[ASN][1000 genomes]
rs2584726	0.80[AMR][1000 genomes]
rs28415933	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28461955	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28578454	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28594657	0.83[EUR][1000 genomes]
rs28653441	0.94[ASN][1000 genomes]
rs28702649	0.99[ASN][1000 genomes]
rs28729853	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28758627	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2899082	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213990	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213991	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742971	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[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]
rs3809481	0.88[CEU][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3809482	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4075674	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4296223	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4401024	0.97[ASN][1000 genomes]
rs4547312	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4583210	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs471229	0.80[AMR][1000 genomes]
rs478028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs478104	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs484029	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484846	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs485148	0.83[ASN][1000 genomes]
rs488756	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs491648	0.86[AMR][1000 genomes]
rs491800	0.85[ASN][1000 genomes]
rs495175	0.88[CEU][hapmap]
rs498837	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs499035	0.93[ASN][1000 genomes]
rs507178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs510108	0.93[ASN][1000 genomes]
rs511673	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512628	1.00[ASN][1000 genomes]
rs524527	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs526450	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs527921	0.88[CEU][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs528517	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs537115	0.91[GIH][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap]
rs538238	0.84[CHD][hapmap]
rs540031	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs544122	0.88[CEU][hapmap]
rs550239	0.80[AMR][1000 genomes]
rs552701	0.98[ASN][1000 genomes]
rs558656	0.82[AMR][1000 genomes]
rs565007	0.80[AMR][1000 genomes]
rs573615	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs576557	0.90[ASN][1000 genomes]
rs6493081	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6493082	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493083	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6493084	0.99[ASN][1000 genomes]
rs6493085	0.82[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493086	0.99[ASN][1000 genomes]
rs6493087	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493088	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs689647	0.88[CEU][hapmap];0.80[GIH][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap]
rs689754	0.87[CEU][hapmap]
rs689781	0.88[CEU][hapmap];0.80[GIH][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap]
rs689826	0.88[CEU][hapmap]
rs689835	0.88[CEU][hapmap]
rs690038	0.82[AMR][1000 genomes]
rs690263	0.80[AMR][1000 genomes]
rs690316	0.88[CEU][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes]
rs690436	0.88[CEU][hapmap];0.80[GIH][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap]
rs694985	0.88[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap]
rs7163245	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7163288	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs7165471	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7166812	0.99[ASN][1000 genomes]
rs7167882	0.91[ASN][1000 genomes]
rs7168940	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7169790	0.83[AMR][1000 genomes]
rs7170152	0.91[ASN][1000 genomes]
rs7170489	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7172374	0.91[ASN][1000 genomes]
rs7173487	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs7175434	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7176849	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.91[ASN][1000 genomes]
rs8033714	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8039638	0.93[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8041132	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8042688	0.99[ASN][1000 genomes]
rs825739	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs825740	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs884704	0.93[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.81[MEX][hapmap];0.96[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs933941	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs956391	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9920879	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs999026	0.88[ASN][1000 genomes]
rs999047	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1512	chr15:43616834-43661646	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs3742969	CKMT1A	cis	Esophagus Mucosa	GTEx
rs3742969	ADAL	cis	parietal	SCAN
rs3742969	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs3742969	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs3742969	ADAL	cis	Artery Tibial	GTEx
rs3742969	ADAL	cis	lung	GTEx
rs3742969	ADAL	cis	Heart Left Ventricle	GTEx
rs3742969	ADAL	cis	Adipose Subcutaneous	GTEx
rs3742969	ADAL	cis	Artery Aorta	GTEx
rs3742969	ADAL	cis	Esophagus Muscularis	GTEx
rs3742969	ADAL	cis	Nerve Tibial	GTEx
rs3742969	ADAL	Cis_1M	lymphoblastoid	RTeQTL
rs3742969	ADAL	cis	Stomach	GTEx
rs3742969	ADAL	cis	multi-tissue	Pritchard
rs3742969	ADAL	cis	Muscle Skeletal	GTEx
rs3742969	ADAL	cis	cerebellum	SCAN
rs3742969	TGM5	cis	lymphoblastoid	seeQTL
rs3742969	ELL3	cis	lymphoblastoid	seeQTL
rs3742969	ADAL	cis	Thyroid	GTEx
rs3742969	ADAL	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43620600-43622000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
2	chr15:43620600-43622000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr15:43620600-43622000	Enhancers	Spleen	Spleen
4	chr15:43620600-43622200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr15:43620800-43622000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:43620800-43622000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr15:43620800-43622000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:43620800-43622000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr15:43620800-43624000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:43621000-43622000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:43621000-43622000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:43621000-43622000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr15:43621000-43622000	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr15:43621000-43622200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:43621000-43622200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:43621000-43622200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr15:43621000-43622200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr15:43621000-43622200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr15:43621000-43622400	Flanking Active TSS	HMEC	breast
20	chr15:43621200-43622000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:43621200-43622000	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr15:43621200-43622000	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr15:43621200-43622000	Flanking Active TSS	HSMMtube	muscle
24	chr15:43621200-43622200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr15:43621200-43622200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr15:43621200-43622200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr15:43621200-43622200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr15:43621200-43622200	Flanking Active TSS	Thymus	Thymus
29	chr15:43621200-43622200	Flanking Active TSS	NH-A	brain
30	chr15:43621200-43622400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr15:43621200-43623200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr15:43621200-43623400	Active TSS	Aorta	Aorta
33	chr15:43621200-43623800	Active TSS	Psoas Muscle	Psoas
34	chr15:43621400-43622000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:43621400-43622000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:43621400-43622000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:43621400-43622000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr15:43621400-43622000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr15:43621400-43622000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr15:43621400-43622000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr15:43621400-43622000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:43621400-43622000	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr15:43621400-43622000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
44	chr15:43621400-43622200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:43621400-43622200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:43621400-43622200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:43621400-43622200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:43621400-43622200	Flanking Active TSS	Liver	Liver
49	chr15:43621400-43622200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr15:43621400-43622200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links