Variant report

Variant	rs1388962
Chromosome Location	chr8:113437239-113437240
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10087242	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10092138	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10106343	0.81[AMR][1000 genomes]
rs10107134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108081	0.81[AMR][1000 genomes]
rs10109807	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10111988	0.83[CEU][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1020597	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1021438	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs10216803	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs10505173	0.81[AMR][1000 genomes]
rs10505174	0.82[CEU][hapmap];0.82[CHB][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10505175	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779960	0.89[CEU][hapmap];0.87[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11780166	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11783041	0.89[CHB][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11787085	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1319683	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13439841	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1352995	0.89[CEU][hapmap];0.87[CHB][hapmap]
rs1492666	0.83[JPT][hapmap]
rs1492675	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1563064	0.81[AMR][1000 genomes]
rs16883549	0.87[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16883689	0.83[CEU][hapmap];0.82[CHB][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16883708	0.81[AMR][1000 genomes]
rs16883735	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16883753	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs1907802	0.81[AMR][1000 genomes]
rs1993207	0.89[CEU][hapmap];0.87[CHB][hapmap]
rs2045033	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2123487	0.81[AMR][1000 genomes]
rs2123489	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167777	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661390	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28762986	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4363229	0.89[CEU][hapmap];0.87[CHB][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5004568	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62514456	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62516467	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62516475	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62516479	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62516481	0.81[AMR][1000 genomes]
rs6981814	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6986274	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7006962	0.82[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7017899	0.88[ASN][1000 genomes]
rs7018185	0.83[AMR][1000 genomes]
rs7463918	0.86[CHB][hapmap]
rs7818544	0.81[AMR][1000 genomes]
rs7820539	0.81[AMR][1000 genomes]
rs7823551	0.83[YRI][hapmap]
rs7824183	0.89[CEU][hapmap];0.87[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7832171	0.89[CEU][hapmap];0.87[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7835735	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7836340	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9297474	0.82[JPT][hapmap]
rs9297476	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2755868	chr8:113282795-113634842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2754232	chr8:113294967-113634842	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv982092	chr8:113435351-113440619	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113426800-113443600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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