Variant report

Variant	rs7530353
Chromosome Location	chr1:220111321-220111322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12403850	1.00[CHB][hapmap];0.94[MEX][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs17552600	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs1890295	1.00[LWK][hapmap]
rs34672561	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs4846606	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72740986	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72740988	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220105600-220113800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:220110800-220112000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:220111000-220112800	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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