Variant report

Variant	rs2636623
Chromosome Location	chr6:133946416-133946417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11154736	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1320114	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1878550	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2251873	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2256702	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2459697	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2636590	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2636591	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636611	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2636612	0.96[ASN][1000 genomes]
rs2636614	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636615	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2636617	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636626	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2677812	0.85[ASN][1000 genomes]
rs2677825	0.80[ASN][1000 genomes]
rs2677827	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2677829	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2677832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2677835	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2677836	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3021401	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4410743	0.93[ASN][1000 genomes]
rs4895979	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62427502	0.81[ASN][1000 genomes]
rs6920911	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6922365	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7746271	0.95[ASN][1000 genomes]
rs9375970	0.81[ASN][1000 genomes]
rs9385655	0.82[ASN][1000 genomes]
rs9385656	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9385657	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9389090	0.83[ASN][1000 genomes]
rs9402519	0.81[ASN][1000 genomes]
rs9493660	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
rs2636623	C6orf191	cis	cerebellum	SCAN
rs2636623	PDE7B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133942800-133948400	Enhancers	Fetal Lung	lung
2	chr6:133944400-133951800	Weak transcription	NH-A	brain
3	chr6:133944400-133962000	Weak transcription	Fetal Kidney	kidney
4	chr6:133944600-133952400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:133945200-133952000	Weak transcription	A549	lung
6	chr6:133945200-133952400	Weak transcription	NHDF-Ad	bronchial
7	chr6:133945400-133948200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:133945400-133952400	Weak transcription	Ovary	ovary
9	chr6:133945800-133948200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:133945800-133952000	Weak transcription	Osteobl	bone
11	chr6:133945800-133952400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:133946200-133950800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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