Variant report

Variant	rs2636617
Chromosome Location	chr6:133943732-133943733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11154736	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1320114	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1878550	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2251873	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2256702	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2459697	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636590	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636591	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2636611	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2636612	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2636614	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2636615	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2636619	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636623	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636626	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2677812	0.86[ASN][1000 genomes]
rs2677825	0.81[ASN][1000 genomes]
rs2677827	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2677829	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2677832	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677835	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2677836	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3021401	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4410743	0.92[ASN][1000 genomes]
rs4895979	0.93[EUR][1000 genomes]
rs62427502	0.82[ASN][1000 genomes]
rs6920911	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6922365	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7746271	0.94[ASN][1000 genomes]
rs9375970	0.82[ASN][1000 genomes]
rs9385655	0.83[ASN][1000 genomes]
rs9385656	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9385657	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9389090	0.81[ASN][1000 genomes]
rs9402519	0.82[ASN][1000 genomes]
rs9493660	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886682	chr6:133892208-133943732	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1019267	chr6:133912335-133975187	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2636617	C6orf191	cis	cerebellum	SCAN
rs2636617	PDE7B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133932200-133944200	Weak transcription	NH-A	brain
2	chr6:133942200-133945800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:133942200-133945800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:133942400-133944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:133942400-133944400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:133942400-133945200	Enhancers	Adipose Nuclei	Adipose
7	chr6:133942400-133945200	Enhancers	HSMM	muscle
8	chr6:133942400-133945400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:133942400-133945800	Enhancers	Fetal Stomach	stomach
10	chr6:133942600-133945200	Enhancers	NHDF-Ad	bronchial
11	chr6:133942600-133945800	Enhancers	Osteobl	bone
12	chr6:133942800-133944600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:133942800-133945200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:133942800-133945200	Enhancers	A549	lung
15	chr6:133942800-133948400	Enhancers	Fetal Lung	lung
16	chr6:133943200-133943800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:133943400-133943800	Weak transcription	Fetal Kidney	kidney
18	chr6:133943400-133944600	Enhancers	NHLF	lung
19	chr6:133943600-133944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:133943600-133944200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:133943600-133944800	Enhancers	Aorta	Aorta
22	chr6:133943600-133945400	Enhancers	Ovary	ovary

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