Variant report

Variant	rs11590710
Chromosome Location	chr1:170396077-170396078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10919407	0.90[ASN][1000 genomes]
rs10919422	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11583564	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11588124	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11589240	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11589376	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11806866	0.86[ASN][1000 genomes]
rs12729774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12735952	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12737862	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12747498	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12751882	0.90[ASN][1000 genomes]
rs12755330	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1333141	0.89[JPT][hapmap]
rs1537394	0.89[JPT][hapmap]
rs16863369	0.86[ASN][1000 genomes]
rs1855220	0.86[ASN][1000 genomes]
rs34593046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34597697	0.90[ASN][1000 genomes]
rs34621734	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35299255	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35329498	0.86[ASN][1000 genomes]
rs35564609	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35581791	0.85[ASN][1000 genomes]
rs4488075	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61824337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61824349	0.86[ASN][1000 genomes]
rs61824356	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61824357	0.86[ASN][1000 genomes]
rs6427248	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6427249	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6668898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676293	1.00[CHB][hapmap];0.93[GIH][hapmap]
rs67243697	0.86[ASN][1000 genomes]
rs72707653	0.90[EUR][1000 genomes]
rs7515690	1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7552922	0.93[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2756870	chr1:170315081-170413292	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2758977	chr1:170315081-170413292	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1000945	chr1:170367650-170401770	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11590710	GORAB	cis	Artery Tibial	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170395400-170396200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:170395400-170396400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:170395400-170396400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:170395600-170396200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:170395600-170396200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:170395800-170396200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:170395800-170396200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:170395800-170396400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:170395800-170396600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:170395800-170396600	Enhancers	Fetal Heart	heart

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