Variant report

Variant	rs7962590
Chromosome Location	chr12:44294199-44294200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4768048	0.82[ASN][1000 genomes]
rs4768537	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969372	0.82[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	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44279200-44297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44288000-44296000	Weak transcription	Psoas Muscle	Psoas
3	chr12:44292400-44294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:44292600-44294200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:44292800-44294200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:44292800-44294200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:44293000-44294600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44293800-44300800	Weak transcription	ES-I3 Cell Line	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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