Variant report

Variant	rs2716613
Chromosome Location	chr2:12078496-12078497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2581083	0.83[ASN][1000 genomes]
rs2716612	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2716646	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2716613	PARP3	trans	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12071200-12081200	Weak transcription	Right Atrium	heart
2	chr2:12072600-12084600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:12074400-12084200	Weak transcription	GM12878-XiMat	blood
4	chr2:12078000-12078800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:12078000-12079400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:12078000-12079400	Enhancers	HMEC	breast
7	chr2:12078000-12080200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:12078200-12078800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:12078200-12078800	Enhancers	Fetal Stomach	stomach
10	chr2:12078200-12078800	Enhancers	HSMM	muscle
11	chr2:12078200-12079000	Flanking Active TSS	NHEK	skin
12	chr2:12078200-12079400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:12078400-12078600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:12078400-12078800	Enhancers	HSMMtube	muscle

Quick Search:

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

what's new

Quick links