Variant report

Variant	rs4917096
Chromosome Location	chr7:49915233-49915234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10269039	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11767401	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11767462	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11773433	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12718237	0.90[CHB][hapmap]
rs1343918	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1911768	0.88[ASN][1000 genomes]
rs2128663	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35915360	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3778763	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3800587	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3807318	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4916996	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4917003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6583418	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs6946345	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6964954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6973660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs959676	1.00[CHB][hapmap];0.83[JPT][hapmap]

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	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:49906800-49917800	Weak transcription	Fetal Heart	heart
2	chr7:49913200-49923600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:49914400-49915600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:49915000-49915400	Enhancers	Left Ventricle	heart
5	chr7:49915000-49915400	Enhancers	Ovary	ovary
6	chr7:49915000-49915400	Enhancers	Pancreas	Pancrea

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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