Variant report

Variant	rs1793476
Chromosome Location	chr11:76992664-76992665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10793246	0.83[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs10899364	0.83[CEU][hapmap]
rs10899365	0.83[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs10899368	0.85[EUR][1000 genomes]
rs10899369	0.82[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs10899379	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs11237131	0.83[EUR][1000 genomes]
rs11237137	0.83[EUR][1000 genomes]
rs11237147	0.83[CEU][hapmap]
rs11237154	0.85[EUR][1000 genomes]
rs11600983	0.82[ASN][1000 genomes]
rs12274255	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs12287216	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs12287680	0.83[CEU][hapmap]
rs12418037	0.81[JPT][hapmap]
rs12788116	0.83[EUR][1000 genomes]
rs1377470	0.81[TSI][hapmap]
rs1540217	0.86[EUR][1000 genomes]
rs1613357	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs1618188	0.83[CEU][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs1620915	0.87[EUR][1000 genomes]
rs1621624	0.87[EUR][1000 genomes]
rs1628438	0.85[EUR][1000 genomes]
rs1670451	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs1670452	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs1670453	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs1670454	0.84[EUR][1000 genomes]
rs1670457	0.88[EUR][1000 genomes]
rs1670459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670460	0.87[EUR][1000 genomes]
rs1793466	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs1793467	0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs1793469	0.85[EUR][1000 genomes]
rs1793470	0.85[EUR][1000 genomes]
rs1793483	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1793488	0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs1894214	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs1894215	0.82[EUR][1000 genomes]
rs1946004	0.86[EUR][1000 genomes]
rs1946005	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs2007466	0.83[ASN][1000 genomes]
rs2250647	0.81[TSI][hapmap]
rs2602465	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs2602472	0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs2725812	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs2725819	0.88[EUR][1000 genomes]
rs2729762	0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs2729764	0.83[EUR][1000 genomes]
rs2844333	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2844337	0.81[TSI][hapmap]
rs2853096	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs3015989	0.82[JPT][hapmap]
rs3015993	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs3018424	0.81[EUR][1000 genomes]
rs34420077	0.84[ASN][1000 genomes]
rs476925	0.91[JPT][hapmap]
rs4944153	0.81[ASN][1000 genomes]
rs4944155	0.80[ASN][1000 genomes]
rs4945162	0.83[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4945166	0.80[CHD][hapmap];0.95[JPT][hapmap]
rs495889	0.82[JPT][hapmap]
rs514191	0.91[JPT][hapmap]
rs57129983	0.83[ASN][1000 genomes]
rs575662	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs599437	0.91[JPT][hapmap]
rs674652	0.82[JPT][hapmap]
rs688212	0.91[JPT][hapmap]
rs7104166	0.83[CEU][hapmap]
rs7104295	0.83[CEU][hapmap]
rs7118869	0.91[JPT][hapmap]
rs7121483	0.83[CEU][hapmap]
rs7928731	0.83[ASN][1000 genomes]
rs7938075	0.83[CEU][hapmap]
rs883223	0.81[JPT][hapmap]
rs9634031	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1793476	UCP2	cis	cerebellum	SCAN
rs1793476	PAK1	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76990200-76995000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:76990200-76998000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:76990600-76994000	Weak transcription	Liver	Liver
4	chr11:76990600-76994600	Weak transcription	Osteobl	bone
5	chr11:76990600-76995000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:76990600-76995600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:76990600-76998000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:76990600-76998200	Weak transcription	HSMM	muscle
9	chr11:76991600-76993000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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