Variant report

Variant	rs11707813
Chromosome Location	chr3:61181318-61181319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10866044	0.82[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.83[MKK][hapmap];0.88[ASN][1000 genomes]
rs11130818	0.91[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs11130819	0.88[ASN][1000 genomes]
rs11711938	0.86[ASN][1000 genomes]
rs11716189	0.87[ASN][1000 genomes]
rs11720347	0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs11917930	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11927024	0.92[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs11927051	0.94[EUR][1000 genomes]
rs11929245	0.94[EUR][1000 genomes]
rs12492742	0.92[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12494269	0.82[ASN][1000 genomes]
rs12494967	0.91[CHD][hapmap];0.84[ASN][1000 genomes]
rs12629280	0.99[EUR][1000 genomes]
rs12632475	0.83[ASN][1000 genomes]
rs12633494	0.93[CHD][hapmap];0.81[ASN][1000 genomes]
rs13087102	0.86[ASN][1000 genomes]
rs13323559	0.88[ASN][1000 genomes]
rs1403968	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1880218	0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs2218088	0.96[EUR][1000 genomes]
rs28735912	0.82[ASN][1000 genomes]
rs2886260	0.85[ASN][1000 genomes]
rs4688135	0.83[ASN][1000 genomes]
rs4688292	0.82[ASN][1000 genomes]
rs4688324	0.89[CHD][hapmap];0.85[ASN][1000 genomes]
rs4688333	0.96[EUR][1000 genomes]
rs4688338	0.95[EUR][1000 genomes]
rs61440939	0.83[ASN][1000 genomes]
rs9820155	0.92[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs9820332	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs9823902	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9841468	0.97[EUR][1000 genomes]
rs9864918	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9870560	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs9875228	0.92[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs9875365	0.92[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs9875504	0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs9875844	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs9876185	0.82[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs9877396	0.93[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs9877573	0.86[ASN][1000 genomes]
rs9879191	0.99[EUR][1000 genomes]
rs9879848	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9881340	0.88[ASN][1000 genomes]
rs9917837	0.82[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.81[MKK][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759152	chr3:60781943-61220809	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2757873	chr3:61019003-61185558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv876866	chr3:61054494-61310328	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv876867	chr3:61054494-61474575	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1000378	chr3:61103229-61238089	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv590425	chr3:61132698-61186550	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1012435	chr3:61136874-61181318	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1014142	chr3:61136874-61184782	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv2756994	chr3:61144427-61220809	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv876868	chr3:61145050-61282503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv532626	chr3:61159646-61388418	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv997718	chr3:61176349-61222975	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
14	nsv1008399	chr3:61176965-61461349	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11707813	MRGPRX4	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61151200-61188000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:61161000-61186000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:61172400-61203000	Weak transcription	Pancreas	Pancrea
4	chr3:61176200-61183200	Weak transcription	Lung	lung
5	chr3:61177600-61185800	Weak transcription	Fetal Intestine Small	intestine
6	chr3:61177800-61181400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:61178800-61182400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:61179000-61182800	Enhancers	HepG2	liver
9	chr3:61180000-61182600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:61180600-61181400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:61180600-61181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:61180800-61181400	Enhancers	GM12878-XiMat	blood
13	chr3:61181000-61181400	Enhancers	Fetal Intestine Large	intestine
14	chr3:61181200-61182200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:61181200-61182400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:61181200-61185600	Weak transcription	Brain Substantia Nigra	brain

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