Variant report

Variant	rs2808636
Chromosome Location	chr1:159566647-159566648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11588608	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592890	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2794502	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2808637	0.81[AMR][1000 genomes]
rs2808639	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2808641	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2998428	0.87[EUR][1000 genomes]
rs4526607	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72698544	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2808636	PYHIN1	cis	parietal	SCAN
rs2808636	KLHDC9	cis	parietal	SCAN
rs2808636	INSRR	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159563800-159573400	Weak transcription	Liver	Liver
2	chr1:159564000-159569400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:159565000-159566800	Weak transcription	HSMMtube	muscle
4	chr1:159565000-159567000	Weak transcription	Osteobl	bone
5	chr1:159565400-159567400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:159565400-159567600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:159565400-159569200	Enhancers	HUVEC	blood vessel
8	chr1:159566400-159567600	Enhancers	HSMM	muscle
9	chr1:159566400-159569000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:159566600-159567200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:159566600-159568600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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Input of quick search could be:

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

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