Variant report

Variant	rs639230
Chromosome Location	chr15:40041924-40041925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1166714	1.00[ASN][1000 genomes]
rs1166719	1.00[AMR][1000 genomes]
rs1166720	1.00[AMR][1000 genomes]
rs1166726	1.00[AMR][1000 genomes]
rs11854571	1.00[ASN][1000 genomes]
rs12899512	1.00[ASN][1000 genomes]
rs12906874	1.00[ASN][1000 genomes]
rs12911910	1.00[ASN][1000 genomes]
rs12912555	1.00[ASN][1000 genomes]
rs12914638	1.00[ASN][1000 genomes]
rs12915867	1.00[ASN][1000 genomes]
rs16969527	1.00[ASN][1000 genomes]
rs16969537	1.00[AMR][1000 genomes]
rs16969600	1.00[AMR][1000 genomes]
rs16969678	1.00[AMR][1000 genomes]
rs16969824	1.00[ASN][1000 genomes]
rs16969826	1.00[ASN][1000 genomes]
rs17712446	1.00[ASN][1000 genomes]
rs2638008	1.00[AMR][1000 genomes]
rs2638011	1.00[AMR][1000 genomes]
rs34118678	1.00[ASN][1000 genomes]
rs34253013	1.00[ASN][1000 genomes]
rs34565631	1.00[ASN][1000 genomes]
rs34775207	1.00[ASN][1000 genomes]
rs4322636	1.00[AMR][1000 genomes]
rs4641712	1.00[AMR][1000 genomes]
rs55968896	1.00[ASN][1000 genomes]
rs596717	1.00[AMR][1000 genomes]
rs612775	1.00[AMR][1000 genomes]
rs62002390	1.00[ASN][1000 genomes]
rs62002419	1.00[ASN][1000 genomes]
rs62002435	1.00[ASN][1000 genomes]
rs628076	1.00[AMR][1000 genomes]
rs74008878	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	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40035600-40050000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:40039400-40049000	Weak transcription	HUVEC	blood vessel
3	chr15:40040800-40044800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:40040800-40063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:40041200-40044400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:40041200-40044800	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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