Variant report

Variant	rs1385648
Chromosome Location	chr4:20030259-20030260
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1026973	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1032135	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12643020	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2200423	0.92[EUR][1000 genomes]
rs2256261	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629713	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2629714	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2629718	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2708981	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2708988	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952723	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36122805	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55871105	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs923117	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529290	chr4:19658583-20173839	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv593790	chr4:19740879-20142039	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2752044	chr4:19788263-20126804	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1004033	chr4:19986986-20043516	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20029600-20030400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:20029800-20031000	Enhancers	NHEK	skin
3	chr4:20029800-20031400	Enhancers	Hela-S3	cervix
4	chr4:20029800-20033000	Enhancers	HUVEC	blood vessel
5	chr4:20030000-20030400	Enhancers	NHDF-Ad	bronchial
6	chr4:20030000-20030800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:20030000-20030800	Enhancers	HMEC	breast
8	chr4:20030200-20030400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr4:20030200-20030800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:20030200-20030800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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