Variant report

Variant	rs57258219
Chromosome Location	chr20:40842216-40842217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11906485	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13039931	0.87[EUR][1000 genomes]
rs16986540	0.87[EUR][1000 genomes]
rs16986684	0.84[ASN][1000 genomes]
rs17224358	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34666633	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv7918	chr20:40841650-40844386	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
4	esv3454820	chr20:40841752-40844426	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
5	esv3334328	chr20:40841867-40844345	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv3454821	chr20:40841889-40844327	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	esv3454822	chr20:40841903-40844326	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40828000-40850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40841200-40842600	Enhancers	Fetal Brain Female	brain
3	chr20:40841600-40843200	Enhancers	Fetal Brain Male	brain

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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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