Variant report

Variant	rs6130094
Chromosome Location	chr20:40899357-40899358
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12624403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12625660	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16986553	0.81[EUR][1000 genomes]
rs2223422	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56030532	1.00[AFR][1000 genomes]
rs6093610	0.89[EUR][1000 genomes]
rs6124420	0.81[EUR][1000 genomes]
rs6124431	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6130051	0.81[EUR][1000 genomes]
rs6130052	0.81[EUR][1000 genomes]
rs6130055	0.81[EUR][1000 genomes]
rs73121626	1.00[AFR][1000 genomes]
rs73131114	1.00[AFR][1000 genomes]
rs8183826	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40885400-40902800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40893200-40901200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:40896600-40905400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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