Variant report

Variant	rs34696241
Chromosome Location	chr8:119519586-119519587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12674772	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682339	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4129893	0.93[ASN][1000 genomes]
rs4242582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242583	0.89[ASN][1000 genomes]
rs4242585	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4421377	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4551393	1.00[ASN][1000 genomes]
rs4876851	0.96[ASN][1000 genomes]
rs56078225	0.96[ASN][1000 genomes]
rs56151246	1.00[ASN][1000 genomes]
rs56306005	1.00[ASN][1000 genomes]
rs62531882	0.93[ASN][1000 genomes]
rs62531887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119502000-119522400	Weak transcription	Pancreas	Pancrea
2	chr8:119516800-119520000	Enhancers	Stomach Mucosa	stomach
3	chr8:119517000-119520200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:119517000-119522800	Enhancers	HMEC	breast
5	chr8:119517200-119520400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:119517200-119522800	Enhancers	NHEK	skin
7	chr8:119517600-119519800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:119518000-119519800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:119518000-119520000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:119518000-119520000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:119518000-119522800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:119518200-119521600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:119518400-119523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:119518600-119523000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:119519400-119519800	Enhancers	GM12878-XiMat	blood
16	chr8:119519400-119520000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr8:119519400-119520800	Weak transcription	Liver	Liver

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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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