Variant report

Variant	rs1994315
Chromosome Location	chr3:85144149-85144150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1013839	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs10433523	0.81[EUR][1000 genomes]
rs11127873	0.81[EUR][1000 genomes]
rs1248858	0.83[MEX][hapmap]
rs1248859	0.83[MEX][hapmap]
rs12637767	0.81[ASN][1000 genomes]
rs13072305	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1376934	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs1452117	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1452120	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1452121	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs1452125	0.90[ASN][1000 genomes]
rs17022545	1.00[YRI][hapmap]
rs17022638	1.00[YRI][hapmap]
rs1839939	0.81[ASN][1000 genomes]
rs2062431	0.90[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2123162	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs2167604	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs2200461	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2200464	0.82[EUR][1000 genomes]
rs2220243	0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2326126	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326128	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4410457	0.81[EUR][1000 genomes]
rs4499618	0.84[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4856268	0.90[ASN][1000 genomes]
rs4856559	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4856560	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62250629	0.81[EUR][1000 genomes]
rs6549007	1.00[YRI][hapmap]
rs6549009	0.84[CEU][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6549011	0.81[EUR][1000 genomes]
rs6549012	0.81[EUR][1000 genomes]
rs6765011	0.81[EUR][1000 genomes]
rs6768559	0.94[CEU][hapmap];0.89[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6775464	0.81[EUR][1000 genomes]
rs6788656	0.80[EUR][1000 genomes]
rs6790864	0.81[EUR][1000 genomes]
rs6794614	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6796393	0.81[EUR][1000 genomes]
rs6798922	0.82[EUR][1000 genomes]
rs7625890	0.81[ASN][1000 genomes]
rs7635695	0.81[ASN][1000 genomes]
rs7636138	0.82[EUR][1000 genomes]
rs7645952	0.90[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7647649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs765461	0.84[CEU][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9309970	0.81[EUR][1000 genomes]
rs9682566	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs9814390	0.84[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9814835	0.81[EUR][1000 genomes]
rs9820587	0.82[EUR][1000 genomes]
rs9855054	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9857682	0.90[ASN][1000 genomes]
rs986132	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs9869902	0.90[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002058	chr3:84757044-85389876	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	nsv492289	chr3:85066623-85319147	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	nsv877093	chr3:85101501-85194054	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv590897	chr3:85122624-85187085	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv877094	chr3:85124697-85253981	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85143200-85144200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:85143200-85145000	Weak transcription	Psoas Muscle	Psoas

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