Variant report

Variant	rs4767703
Chromosome Location	chr12:119132212-119132213
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10851006	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10851015	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610340	0.84[CEU][hapmap]
rs11614043	0.90[EUR][1000 genomes]
rs11614956	0.91[EUR][1000 genomes]
rs1402339	0.81[AFR][1000 genomes]
rs1402340	0.81[AFR][1000 genomes]
rs1520778	0.82[JPT][hapmap]
rs1851093	0.84[CEU][hapmap]
rs2088679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649957	0.84[ASN][1000 genomes]
rs2649958	0.82[ASN][1000 genomes]
rs2682777	0.84[ASN][1000 genomes]
rs2730747	0.84[ASN][1000 genomes]
rs7301920	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1039515	chr12:119085196-119218918	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045363	chr12:119091734-119219659	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv519756	chr12:119092357-119227242	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4767703	NCRNA00173	cis	parietal	SCAN
rs4767703	MLEC	cis	cerebellum	SCAN
rs4767703	PLA2G1B	cis	cerebellum	SCAN
rs4767703	WSB2	cis	lymphoblastoid	seeQTL
rs4767703	PLBD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119131600-119132600	Enhancers	Colon Smooth Muscle	Colon
2	chr12:119131800-119132600	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:119132200-119132800	Enhancers	Fetal Muscle Leg	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