Variant report

Variant	rs1502807
Chromosome Location	chr12:58647067-58647068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12809368	0.81[ASN][1000 genomes]
rs12809528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817097	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822095	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12822443	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12824498	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824735	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12825103	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34720173	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73101998	1.00[AMR][1000 genomes];0.99[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	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1502807	C12orf10	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58644200-58647400	Weak transcription	Right Atrium	heart
2	chr12:58644200-58648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:58644400-58658800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:58646200-58647400	Enhancers	HMEC	breast
5	chr12:58646400-58648600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:58646600-58647800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:58646600-58647800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:58646800-58647200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:58646800-58648000	Enhancers	NHEK	skin
10	chr12:58646800-58648400	Enhancers	HUVEC	blood vessel

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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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