Variant report

Variant	rs2384970
Chromosome Location	chr8:49662283-49662284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49657699..49660104-chr8:49660800..49663399,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10090157	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10090819	0.82[ASN][1000 genomes]
rs10092718	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10097910	0.90[ASN][1000 genomes]
rs10101066	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10111821	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1126259	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11785748	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12155607	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12542203	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12547015	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12547603	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12547619	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550270	0.81[ASN][1000 genomes]
rs13271216	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13276316	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1482261	0.82[ASN][1000 genomes]
rs35243529	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873084	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873285	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873287	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4873288	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923266	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984858	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6990865	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7835152	0.82[ASN][1000 genomes]
rs900238	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9298058	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs966703	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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	esv2761425	chr8:49658066-49669601	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49656800-49662400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:49660400-49662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:49661000-49668200	Weak transcription	Pancreas	Pancrea
4	chr8:49661200-49662400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:49661400-49666000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:49661600-49666000	Weak transcription	Osteobl	bone
7	chr8:49661800-49665400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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