Variant report

Variant	rs7941439
Chromosome Location	chr11:8078139-8078140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10734628	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs11041732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11601971	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs11821236	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822728	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823329	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1406096	0.87[ASN][1000 genomes]
rs1528129	0.87[EUR][1000 genomes]
rs1881233	0.94[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141322	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2178152	1.00[CHB][hapmap]
rs35326533	0.87[ASN][1000 genomes]
rs35807385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36113068	0.87[ASN][1000 genomes]
rs4483583	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs55642260	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55755543	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55810550	1.00[ASN][1000 genomes]
rs55953869	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55961279	1.00[ASN][1000 genomes]
rs56242213	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56657031	1.00[ASN][1000 genomes]
rs58666270	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59118706	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59924750	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112750	0.87[ASN][1000 genomes]
rs7113956	0.87[ASN][1000 genomes]
rs7124782	0.81[ASN][1000 genomes]
rs73396771	0.87[ASN][1000 genomes]
rs73396784	0.87[ASN][1000 genomes]
rs74052193	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74052195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74052196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74052199	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926428	1.00[JPT][hapmap]
rs7939493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7941439	TMEM9B	cis	parietal	SCAN
rs7941439	OR56A3	cis	parietal	SCAN
rs7941439	OR51S1	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8075800-8090000	Weak transcription	Spleen	Spleen
2	chr11:8076200-8078800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:8076200-8078800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:8076400-8078200	Enhancers	Fetal Brain Male	brain
5	chr11:8076600-8078200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:8076800-8078600	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:8076800-8078800	Enhancers	Right Ventricle	heart
8	chr11:8076800-8079400	Enhancers	Fetal Stomach	stomach
9	chr11:8077000-8078600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:8077400-8078800	Enhancers	Brain Angular Gyrus	brain
11	chr11:8077400-8079200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:8077600-8078200	Enhancers	Brain Anterior Caudate	brain
13	chr11:8077600-8078600	Enhancers	Left Ventricle	heart
14	chr11:8077800-8078200	Weak transcription	Placenta	Placenta
15	chr11:8077800-8078600	Enhancers	Right Atrium	heart
16	chr11:8077800-8078600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:8078000-8078200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:8078000-8078400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:8078000-8078400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr11:8078000-8078600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:8078000-8079000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:8078000-8080000	Enhancers	Colon Smooth Muscle	Colon

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