Variant report

Variant	rs12638482
Chromosome Location	chr3:85454815-85454816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85453248..85455514-chr3:85462247..85464334,2	K562	blood:
2	chr3:85454106..85456659-chr3:85459742..85462489,2	K562	blood:
3	chr3:85448906..85450732-chr3:85454290..85457141,2	K562	blood:

Extended variants
information (count: 243 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:229)

rs_ID	r²[population]
rs1025531	0.85[CHB][hapmap]
rs1030721	0.85[CHB][hapmap]
rs10433499	0.83[EUR][1000 genomes]
rs10433500	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10433525	0.83[EUR][1000 genomes]
rs10511075	0.89[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs10511076	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs10511081	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs10511083	0.89[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10511085	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10511087	0.96[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10865610	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs11127890	0.85[CHB][hapmap]
rs11127893	0.86[EUR][1000 genomes]
rs11127896	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs11127897	0.83[EUR][1000 genomes]
rs1155666	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11919099	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs11921010	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12491722	0.81[EUR][1000 genomes]
rs12494446	0.89[CEU][hapmap]
rs12633762	0.85[CHB][hapmap]
rs12637791	0.86[EUR][1000 genomes]
rs12637798	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12638040	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs12638798	0.83[EUR][1000 genomes]
rs12639564	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs1368740	0.85[CHB][hapmap]
rs1368742	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1368750	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1375545	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1375551	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs1375554	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1375555	0.86[CEU][hapmap];0.85[CHB][hapmap]
rs1375557	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1375560	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1375566	0.89[CEU][hapmap]
rs1433708	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1433714	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1449372	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1449373	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1449380	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1449382	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1449386	0.89[CEU][hapmap]
rs1449390	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1449391	0.89[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1449405	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1449409	0.85[CHB][hapmap]
rs1463205	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1463206	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs1463208	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1470635	0.89[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1470636	0.86[EUR][1000 genomes]
rs1530738	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1530739	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1530740	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1542248	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1549979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1551043	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1551044	0.84[EUR][1000 genomes]
rs1597315	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs17022915	0.84[CHB][hapmap]
rs17023032	0.89[CEU][hapmap]
rs17455991	0.81[EUR][1000 genomes]
rs17456263	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17456763	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs17456820	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs17457050	0.85[EUR][1000 genomes]
rs17457189	0.84[EUR][1000 genomes]
rs17457217	0.83[EUR][1000 genomes]
rs17457377	0.83[EUR][1000 genomes]
rs17457426	0.83[EUR][1000 genomes]
rs17457454	0.83[EUR][1000 genomes]
rs17457642	0.80[EUR][1000 genomes]
rs17457669	0.80[EUR][1000 genomes]
rs17459563	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs17460701	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs17515196	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17515586	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs17516256	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs17516284	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs17516346	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs17516470	0.85[EUR][1000 genomes]
rs17516504	0.85[EUR][1000 genomes]
rs17516546	0.85[EUR][1000 genomes]
rs17516580	0.84[EUR][1000 genomes]
rs17516683	0.85[EUR][1000 genomes]
rs17516857	0.83[EUR][1000 genomes]
rs17517080	0.83[EUR][1000 genomes]
rs17517121	0.89[CEU][hapmap];0.85[CHB][hapmap];0.80[EUR][1000 genomes]
rs17517142	0.80[EUR][1000 genomes]
rs17517238	0.80[EUR][1000 genomes]
rs17518584	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs17519241	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1813696	0.86[EUR][1000 genomes]
rs1865250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1865251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1865252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1868532	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1900914	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs1900918	0.89[CEU][hapmap];0.85[CHB][hapmap];0.80[EUR][1000 genomes]
rs1947221	0.92[CEU][hapmap]
rs1991872	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1992967	0.81[EUR][1000 genomes]
rs2029130	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs2029132	0.89[CEU][hapmap]
rs2029133	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs2033526	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2053108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2069123	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2077839	0.86[EUR][1000 genomes]
rs2082556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2117151	0.82[CHB][hapmap]
rs2117153	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2122233	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs2122235	0.84[EUR][1000 genomes]
rs2167044	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs2167045	0.80[CEU][hapmap]
rs2167046	0.83[EUR][1000 genomes]
rs2167047	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2326309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2326320	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs28655875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2875907	0.87[EUR][1000 genomes]
rs34305569	0.85[EUR][1000 genomes]
rs35438712	0.83[EUR][1000 genomes]
rs35701422	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35738543	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35827242	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4441668	0.93[CEU][hapmap];0.85[CHB][hapmap]
rs4502590	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs4637303	0.83[EUR][1000 genomes]
rs4856271	0.89[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs4856571	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4856572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4856573	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4856590	0.89[CEU][hapmap]
rs4856596	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs55801641	0.85[EUR][1000 genomes]
rs56779213	0.85[EUR][1000 genomes]
rs56816351	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57630146	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57756567	0.85[EUR][1000 genomes]
rs58796643	0.81[EUR][1000 genomes]
rs58828944	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58919842	0.85[EUR][1000 genomes]
rs59225869	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59491876	0.85[EUR][1000 genomes]
rs59770976	0.85[EUR][1000 genomes]
rs59825726	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59967234	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60311538	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60597959	0.80[EUR][1000 genomes]
rs61586601	0.83[EUR][1000 genomes]
rs62250685	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62250711	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62250712	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62250713	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62250714	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62250715	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62250719	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62250750	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62250754	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62250758	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62252462	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62252463	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62252464	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62252465	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62252466	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62252467	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62252512	0.85[EUR][1000 genomes]
rs62252513	0.83[EUR][1000 genomes]
rs62252516	0.83[EUR][1000 genomes]
rs62252518	0.83[EUR][1000 genomes]
rs62252519	0.83[EUR][1000 genomes]
rs62253961	0.80[EUR][1000 genomes]
rs6549024	0.85[CHB][hapmap]
rs6549030	0.83[EUR][1000 genomes]
rs6549036	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6549039	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6549040	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6549041	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6549043	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs66625173	0.85[EUR][1000 genomes]
rs66781790	0.81[EUR][1000 genomes]
rs66922686	0.80[EUR][1000 genomes]
rs67336646	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67544605	0.85[EUR][1000 genomes]
rs6762267	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6762535	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6762733	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6766493	0.83[EUR][1000 genomes]
rs6766690	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6774985	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6779501	0.83[EUR][1000 genomes]
rs6780968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6788098	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6790090	0.89[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs6790699	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6794866	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6801823	0.86[CEU][hapmap];0.85[CHB][hapmap]
rs6804845	0.89[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs724304	0.85[CHB][hapmap]
rs726610	0.82[EUR][1000 genomes]
rs7427346	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7609594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7614148	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7614552	0.84[EUR][1000 genomes]
rs7616458	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs7617356	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs7618124	0.84[EUR][1000 genomes]
rs7618429	0.89[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7620313	0.89[CEU][hapmap];0.85[CHB][hapmap];0.80[EUR][1000 genomes]
rs7621381	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7634761	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs7636243	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7638953	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7650284	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7653790	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs9309981	0.85[CHB][hapmap]
rs9309982	0.85[CHB][hapmap]
rs956281	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs9833314	0.85[CHB][hapmap]
rs9838811	0.85[CHB][hapmap]
rs9864170	0.85[CHB][hapmap]
rs9880919	0.85[CHB][hapmap]
rs993136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs993137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs993716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3419993	chr3:85030343-85663403	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	esv2753915	chr3:85071410-85624810	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv948806	chr3:85304744-85463443	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1013407	chr3:85307022-85460325	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1002238	chr3:85357855-85719373	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
6	nsv536619	chr3:85357855-85719373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1008956	chr3:85394816-85460325	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv536620	chr3:85394816-85460325	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1004254	chr3:85394816-85514910	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv536621	chr3:85394816-85514910	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
11	nsv590904	chr3:85438564-85551403	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv590905	chr3:85438564-85797093	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv998829	chr3:85449960-85641099	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv536622	chr3:85449960-85641099	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85450400-85457800	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links