Variant report

Variant	rs9798179
Chromosome Location	chr2:110290381-110290382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110287242..110289237-chr2:110289566..110292595,3	MCF-7	breast:
2	chr2:110266262..110268417-chr2:110288079..110290936,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10195867	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036317	1.00[ASN][1000 genomes]
rs1036318	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.86[MKK][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10496432	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006297	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412327	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1811388	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28464093	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28553892	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28570680	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599496	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28696274	0.83[AMR][1000 genomes]
rs3213866	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34111852	0.82[ASW][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];0.83[AMR][1000 genomes]
rs34269507	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34311530	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34441132	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34517320	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34821058	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223862	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35392016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531839	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35550721	1.00[ASN][1000 genomes]
rs35955221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482487	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953721	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953729	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953730	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953788	0.82[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.86[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953847	0.83[AMR][1000 genomes]
rs4953848	0.83[AMR][1000 genomes]
rs4953849	0.83[AMR][1000 genomes]
rs4953853	1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];0.83[AMR][1000 genomes]
rs55794045	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56794190	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58031484	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594050	0.82[ASW][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];0.83[AMR][1000 genomes]
rs6709945	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719215	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725792	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737736	0.83[AMR][1000 genomes]
rs6751785	0.82[ASW][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72824772	0.97[EUR][1000 genomes]
rs72824788	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824789	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72824796	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824800	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72824802	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753492	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565483	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577865	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9330321	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9750931	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9751648	0.92[EUR][1000 genomes]
rs9752531	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9798179	ACOXL	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110274000-110292800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:110280600-110290600	Weak transcription	Fetal Kidney	kidney
3	chr2:110281000-110292800	Weak transcription	Spleen	Spleen
4	chr2:110285000-110299200	Weak transcription	Aorta	Aorta
5	chr2:110287200-110293200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:110288000-110292600	Weak transcription	Right Ventricle	heart
7	chr2:110288000-110293200	Weak transcription	Ovary	ovary
8	chr2:110288000-110299000	Weak transcription	Esophagus	oesophagus
9	chr2:110288600-110293000	Weak transcription	Gastric	stomach
10	chr2:110288800-110292600	Weak transcription	Right Atrium	heart
11	chr2:110288800-110292800	Weak transcription	Placenta	Placenta
12	chr2:110288800-110293000	Weak transcription	Lung	lung
13	chr2:110289200-110292400	Weak transcription	Fetal Heart	heart
14	chr2:110290200-110291000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links