Variant report

Variant	rs2023138
Chromosome Location	chr8:118401955-118401956
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10955816	0.87[ASN][1000 genomes]
rs1387434	0.86[AFR][1000 genomes]
rs1489408	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1586601	0.86[AFR][1000 genomes]
rs1686344	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1686347	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1686348	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1686354	0.86[AFR][1000 genomes]
rs1695718	0.88[EUR][1000 genomes]
rs1793740	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1793742	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1793750	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2635123	0.89[EUR][1000 genomes]
rs2649096	0.89[EUR][1000 genomes]
rs28368557	0.93[EUR][1000 genomes]
rs56382853	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs902054	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027039	chr8:118143762-118460954	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv831435	chr8:118266417-118466651	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428525	chr8:118384428-118543349	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831436	chr8:118384463-118543297	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv972193	chr8:118399518-118413497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118397600-118402000	Enhancers	HMEC	breast
2	chr8:118398800-118409600	Weak transcription	NHDF-Ad	bronchial
3	chr8:118401600-118409800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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