Variant report

Variant	rs2072234
Chromosome Location	chr11:17522810-17522811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1076311	0.91[ASW][hapmap];0.84[CEU][hapmap];0.95[GIH][hapmap];0.83[LWK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10766407	0.84[CEU][hapmap];0.98[GIH][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10832796	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs11024315	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2003508	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2018972	0.84[CEU][hapmap];0.98[GIH][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2190453	0.91[ASW][hapmap];0.84[CEU][hapmap];0.98[GIH][hapmap];0.87[LWK][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2237960	0.81[YRI][hapmap]
rs2237962	0.91[ASW][hapmap];0.84[CEU][hapmap];0.98[GIH][hapmap];0.87[LWK][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3765644	0.84[CEU][hapmap];0.98[GIH][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7104083	0.96[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs733874	0.88[EUR][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2072234	NAV2	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17511200-17526000	Weak transcription	Brain Substantia Nigra	brain
2	chr11:17512600-17530000	Weak transcription	Right Atrium	heart
3	chr11:17513600-17530600	Strong transcription	Fetal Intestine Small	intestine
4	chr11:17515000-17523600	Weak transcription	Dnd41	blood
5	chr11:17515600-17524600	Strong transcription	Fetal Intestine Large	intestine
6	chr11:17516000-17523000	Strong transcription	Duodenum Mucosa	Duodenum
7	chr11:17516800-17529600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:17516800-17553000	Weak transcription	Stomach Mucosa	stomach
9	chr11:17520000-17528600	Weak transcription	Gastric	stomach
10	chr11:17520400-17526000	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:17521400-17529800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:17521800-17529800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:17522600-17531800	Weak transcription	Colonic Mucosa	Colon
14	chr11:17522800-17523200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:17522800-17531200	Weak transcription	Rectal Mucosa Donor 31	rectum

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