Variant report

Variant	rs836599
Chromosome Location	chr2:173577218-173577219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12052642	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12618102	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6743273	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs836639	0.94[AMR][1000 genomes];0.92[EUR][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173575400-173577400	Enhancers	Fetal Heart	heart
2	chr2:173576400-173577400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:173577000-173578600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:173577200-173577400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:173577200-173577400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr2:173577200-173577400	Enhancers	Left Ventricle	heart
7	chr2:173577200-173578400	Enhancers	Right Ventricle	heart

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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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