Variant report

Variant	rs10954564
Chromosome Location	chr7:80921189-80921190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1012950	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1012951	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1015885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10215927	0.80[AMR][1000 genomes]
rs10235727	0.91[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10254060	0.90[JPT][hapmap]
rs10259342	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10270613	0.81[AMR][1000 genomes]
rs10486817	0.86[ASN][1000 genomes]
rs12707314	0.90[JPT][hapmap]
rs13229319	0.81[ASN][1000 genomes]
rs1397005	0.90[JPT][hapmap]
rs1509913	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs161828	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs161835	0.90[JPT][hapmap]
rs161837	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs161843	0.87[GIH][hapmap];0.90[JPT][hapmap]
rs161848	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs162132	0.81[ASN][1000 genomes]
rs162134	0.83[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs162135	0.81[ASN][1000 genomes]
rs162137	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs162138	0.80[ASN][1000 genomes]
rs17626401	0.93[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2040901	0.82[CEU][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap]
rs2057776	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2189565	0.91[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2367489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs245419	0.90[JPT][hapmap]
rs245420	0.81[ASN][1000 genomes]
rs245427	0.81[ASN][1000 genomes]
rs245429	0.81[ASN][1000 genomes]
rs245431	0.80[ASN][1000 genomes]
rs245433	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs245434	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs245436	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs245439	0.97[ASN][1000 genomes]
rs245440	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245441	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245442	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2886992	0.87[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs325966	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs325972	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs325973	0.90[JPT][hapmap]
rs325974	0.90[JPT][hapmap]
rs325975	0.84[JPT][hapmap]
rs34813026	0.94[ASN][1000 genomes]
rs35177237	0.96[ASN][1000 genomes]
rs3948712	0.80[AMR][1000 genomes]
rs4732211	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4732237	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs62465492	0.86[ASN][1000 genomes]
rs6943816	0.93[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6947842	0.94[ASN][1000 genomes]
rs6948864	0.94[ASN][1000 genomes]
rs6950573	0.87[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6962364	0.93[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs7794553	0.81[AMR][1000 genomes]
rs7803017	0.90[JPT][hapmap]
rs976328	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs995353	0.93[CHB][hapmap];0.90[JPT][hapmap];0.93[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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1023149	chr7:80817550-80928090	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv464608	chr7:80866153-80938045	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv607687	chr7:80866153-80938045	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv607688	chr7:80870379-80947517	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	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	chr7:80913200-80928800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:80914400-80928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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