Variant report

Variant	rs6030230
Chromosome Location	chr20:41061375-41061376
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1033414	0.90[ASN][1000 genomes]
rs12624949	0.87[ASN][1000 genomes]
rs16986892	0.92[ASN][1000 genomes]
rs16986907	0.98[ASN][1000 genomes]
rs2142796	0.91[ASN][1000 genomes]
rs35727512	0.91[ASN][1000 genomes]
rs6016793	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6030234	0.90[ASN][1000 genomes]
rs6030237	0.90[ASN][1000 genomes]
rs6102820	0.85[ASN][1000 genomes]
rs6102822	0.91[ASN][1000 genomes]
rs6102827	0.89[ASN][1000 genomes]
rs6102830	0.90[ASN][1000 genomes]
rs6102831	0.97[ASN][1000 genomes]
rs6102832	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62203476	0.86[ASN][1000 genomes]
rs62203479	0.88[ASN][1000 genomes]
rs62203480	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62203499	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[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	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
3	nsv833987	chr20:41007663-41184914	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	9 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	chr20:41042000-41070000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41059400-41061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr20:41060800-41062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr20:41061000-41062200	Enhancers	Fetal Muscle Leg	muscle
5	chr20:41061000-41062400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:41061200-41061800	Weak transcription	Placenta	Placenta
7	chr20:41061200-41062400	Enhancers	Adipose Nuclei	Adipose

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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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