Variant report

Variant	rs34675647
Chromosome Location	chr20:22709683-22709684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22703590..22705719-chr20:22706971..22709788,2	K562	blood:
2	chr20:22707811..22710678-chr20:22712820..22714415,2	K562	blood:

Variant related genes	Relation type
ENSG00000265151	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10485634	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10485635	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10485636	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11087395	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11907108	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12479587	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13036614	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13036740	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13037831	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13037887	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13037911	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13037976	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13038208	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13038520	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13039038	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13039191	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13039411	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13039474	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13040066	0.80[EUR][1000 genomes]
rs13040538	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13040962	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13042154	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13042246	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13044630	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13044931	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13045430	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1983923	0.80[EUR][1000 genomes]
rs1983924	0.80[EUR][1000 genomes]
rs2404489	0.80[EUR][1000 genomes]
rs4371419	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4514951	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4603850	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036197	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036205	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036206	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048291	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6048298	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6048300	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6048302	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6048327	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048328	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6075943	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6113789	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62203753	0.80[EUR][1000 genomes]
rs7260708	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7260791	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7262725	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7263541	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7263645	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7264150	0.80[EUR][1000 genomes]
rs7265587	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7270196	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7270365	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7270493	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7270606	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7272556	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs745661	0.89[EUR][1000 genomes]
rs8117574	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8117625	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8117637	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8117659	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8117748	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8125753	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8126106	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs965763	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs996070	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs996071	0.88[EUR][1000 genomes];0.82[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	nsv1061382	chr20:22706041-22763200	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22707600-22710000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr20:22708000-22710400	Enhancers	Spleen	Spleen
3	chr20:22708200-22710000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:22708400-22710000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:22708400-22710200	Enhancers	HSMM	muscle
6	chr20:22708400-22710600	Enhancers	Stomach Mucosa	stomach
7	chr20:22708800-22710200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:22708800-22710200	Enhancers	A549	lung
9	chr20:22709000-22709800	Enhancers	Right Ventricle	heart
10	chr20:22709000-22710000	Enhancers	HMEC	breast
11	chr20:22709000-22710000	Enhancers	NHEK	skin
12	chr20:22709000-22710400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:22709200-22710200	Enhancers	NHDF-Ad	bronchial
14	chr20:22709200-22711000	Enhancers	GM12878-XiMat	blood
15	chr20:22709400-22709800	Enhancers	Hela-S3	cervix
16	chr20:22709400-22710000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:22709600-22710200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr20:22709600-22710200	Enhancers	HUVEC	blood vessel
19	chr20:22709600-22710200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr20:22709600-22710400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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