Variant report

Variant	rs11770110
Chromosome Location	chr7:48460507-48460508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10227179	0.88[JPT][hapmap];0.85[MEX][hapmap]
rs10227187	0.88[JPT][hapmap]
rs10230786	0.87[JPT][hapmap]
rs10238373	0.82[JPT][hapmap]
rs10248546	0.88[JPT][hapmap]
rs10249009	0.88[JPT][hapmap];0.82[MEX][hapmap]
rs10251517	0.88[JPT][hapmap]
rs10255612	0.88[JPT][hapmap]
rs10256255	0.88[JPT][hapmap];0.82[MEX][hapmap]
rs10267753	0.88[JPT][hapmap];0.81[MEX][hapmap]
rs10273407	0.83[JPT][hapmap]
rs10276989	0.88[JPT][hapmap]
rs10277088	0.83[JPT][hapmap]
rs10280481	0.88[JPT][hapmap];0.82[MEX][hapmap]
rs10282413	0.83[JPT][hapmap]
rs11762388	0.83[JPT][hapmap];0.81[MEX][hapmap]
rs11765338	0.86[JPT][hapmap]
rs12535273	0.83[JPT][hapmap]
rs12535354	0.88[JPT][hapmap]
rs12537664	0.83[JPT][hapmap]
rs12540368	0.88[JPT][hapmap];0.82[MEX][hapmap]
rs1534393	0.83[JPT][hapmap]
rs17730186	0.83[JPT][hapmap]
rs1881077	0.83[JPT][hapmap]
rs2043391	0.88[JPT][hapmap];0.85[MEX][hapmap]
rs2043393	0.88[JPT][hapmap]
rs2178088	0.82[JPT][hapmap]
rs4144065	0.83[JPT][hapmap]
rs4917020	0.88[JPT][hapmap]
rs4917141	0.88[JPT][hapmap];0.82[MEX][hapmap]
rs4917142	0.88[JPT][hapmap];0.80[MEX][hapmap]
rs4917143	0.88[JPT][hapmap];0.82[MEX][hapmap]
rs4917144	0.88[JPT][hapmap]
rs4917145	0.88[JPT][hapmap];0.82[MEX][hapmap]
rs4917147	0.87[JPT][hapmap]
rs4917149	0.88[JPT][hapmap]
rs4917152	0.88[JPT][hapmap]
rs4917153	0.88[JPT][hapmap]
rs4917154	0.88[JPT][hapmap]
rs6959861	0.88[JPT][hapmap];0.95[MEX][hapmap]
rs735070	0.93[JPT][hapmap]
rs7782619	0.88[JPT][hapmap]
rs7799302	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11770110	VWC2	cis	parietal	SCAN
rs11770110	FIGNL1	cis	cerebellum	SCAN
rs11770110	CCM2	cis	parietal	SCAN
rs11770110	PURB	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48449400-48467800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48457400-48461200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:48458600-48461600	Enhancers	HMEC	breast
4	chr7:48459200-48462000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:48459400-48461600	Enhancers	Osteobl	bone
6	chr7:48460000-48461000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:48460000-48465800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:48460200-48460600	Enhancers	Fetal Muscle Leg	muscle
9	chr7:48460200-48460800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:48460200-48461200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:48460400-48460800	Weak transcription	NHEK	skin
12	chr7:48460400-48461800	Enhancers	NH-A	brain

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