Variant report

Variant	rs34554193
Chromosome Location	chr8:127869231-127869232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13256541	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13263103	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13263564	0.83[AFR][1000 genomes]
rs34619157	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35126215	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35507366	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35592235	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35998325	0.91[AFR][1000 genomes]
rs71518692	1.00[AMR][1000 genomes]
rs71518693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7840654	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831456	chr8:127861583-128025508	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127858600-127869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:127866600-127869400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:127868800-127870600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:127868800-127870600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:127869000-127870200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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