Variant report

Variant	rs1018311
Chromosome Location	chr2:86903017-86903018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10176028	0.86[ASN][1000 genomes]
rs11547281	0.80[CHD][hapmap]
rs11895434	0.91[ASN][1000 genomes]
rs12997796	0.85[CHB][hapmap];0.85[CHD][hapmap]
rs13004867	0.85[CHB][hapmap]
rs1437615	0.97[ASN][1000 genomes]
rs34353387	0.85[CHB][hapmap];0.85[CHD][hapmap];0.81[TSI][hapmap]
rs35594332	0.85[CHB][hapmap];0.85[CHD][hapmap];0.81[TSI][hapmap]
rs4423596	0.91[ASN][1000 genomes]
rs59551477	0.81[AFR][1000 genomes]
rs6709371	0.91[ASN][1000 genomes]
rs6758373	0.97[ASN][1000 genomes]
rs7425154	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1018311	POLR1A	cis	cerebellum	SCAN
rs1018311	TMEM150A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86901000-86903200	Enhancers	Colon Smooth Muscle	Colon
2	chr2:86901000-86905200	Weak transcription	HepG2	liver
3	chr2:86901400-86903200	Enhancers	Fetal Heart	heart
4	chr2:86901400-86916800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:86902200-86903200	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:86902600-86903200	Enhancers	Brain Angular Gyrus	brain
7	chr2:86902600-86903200	Enhancers	Esophagus	oesophagus
8	chr2:86902600-86903200	Enhancers	Left Ventricle	heart
9	chr2:86902600-86903200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:86902800-86903200	Enhancers	Gastric	stomach
11	chr2:86902800-86903200	Enhancers	Pancreas	Pancrea
12	chr2:86903000-86903200	Enhancers	Fetal Intestine Large	intestine
13	chr2:86903000-86903200	Enhancers	Fetal Intestine Small	intestine
14	chr2:86903000-86919600	Weak transcription	Placenta	Placenta

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