Variant report

Variant	rs7120590
Chromosome Location	chr11:93319229-93319230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10765617	0.90[EUR][1000 genomes]
rs1080367	0.80[CEU][hapmap]
rs10831062	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10831063	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10831064	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10831076	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10831077	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10831079	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11020421	0.88[ASN][1000 genomes]
rs11020426	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020427	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020450	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11020452	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11020453	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11020454	0.90[EUR][1000 genomes]
rs11020455	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11020479	0.80[CEU][hapmap]
rs11606802	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12222957	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1939568	0.81[CEU][hapmap]
rs1939570	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1939571	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1939572	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1944108	0.80[CEU][hapmap]
rs1954783	0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2155247	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2186685	0.80[CEU][hapmap]
rs2399686	0.80[ASN][1000 genomes]
rs2399688	0.87[ASN][1000 genomes]
rs34679231	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4237559	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4753089	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4753093	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4753094	0.90[EUR][1000 genomes]
rs4753480	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67011570	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7119935	0.93[EUR][1000 genomes]
rs948017	0.91[EUR][1000 genomes];0.83[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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7120590	C11orf54	cis	parietal	SCAN
rs7120590	SCARNA9	cis	parietal	SCAN
rs7120590	SCARNA9	cis	cerebellum	SCAN
rs7120590	MED17	cis	cerebellum	SCAN
rs7120590	MED17	cis	parietal	SCAN
rs7120590	ANKRD49	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93317400-93320200	Weak transcription	K562	blood
2	chr11:93318800-93319400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:93318800-93319400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:93318800-93319400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:93318800-93319400	Enhancers	Gastric	stomach
6	chr11:93318800-93319600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:93319000-93319400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:93319000-93319400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:93319000-93319400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:93319000-93319400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:93319000-93319400	Enhancers	HSMMtube	muscle
12	chr11:93319200-93319400	Enhancers	Fetal Intestine Large	intestine
13	chr11:93319200-93319400	Enhancers	Pancreas	Pancrea
14	chr11:93319200-93319400	Enhancers	NHDF-Ad	bronchial
15	chr11:93319200-93319600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:93319200-93323200	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links