Variant report

Variant	rs7313455
Chromosome Location	chr12:56853231-56853232
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10876891	0.81[CHB][hapmap]
rs1826730	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2088155	0.91[ASN][1000 genomes]
rs2269348	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4630333	0.84[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61937720	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7302060	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7953824	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv1052713	chr12:56848036-56917602	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7313455	LOC283377	cis	multi-tissue	Pritchard
rs7313455	POU6F1	cis	parietal	SCAN
rs7313455	RBMS2	cis	lymphoblastoid	seeQTL
rs7313455	PRIM1	cis	parietal	SCAN
rs7313455	TSPAN31	cis	parietal	SCAN
rs7313455	SMUG1	cis	parietal	SCAN
rs7313455	CDK4	cis	cerebellum	SCAN
rs7313455	RBMS2	cis	multi-tissue	Pritchard
rs7313455	TAC3	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56843800-56858000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:56845000-56856400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:56848600-56856400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:56852200-56861200	Weak transcription	Pancreas	Pancrea
5	chr12:56852800-56856800	Enhancers	HepG2	liver
6	chr12:56853200-56853400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:56853200-56857800	Weak transcription	Stomach Mucosa	stomach

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