Variant report

Variant	rs245481
Chromosome Location	chr5:57623118-57623119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs151807	0.94[JPT][hapmap]
rs151914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181764	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs184999	0.86[JPT][hapmap]
rs190304	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245464	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245491	0.91[JPT][hapmap]
rs246113	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs27209	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2910578	0.84[JPT][hapmap]
rs2910606	0.81[JPT][hapmap]
rs37518	0.81[JPT][hapmap]
rs37535	0.91[JPT][hapmap]
rs37537	0.85[JPT][hapmap]
rs41385	0.80[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs42964	0.91[JPT][hapmap]
rs466047	0.88[AFR][1000 genomes]
rs7715909	0.81[JPT][hapmap]

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	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57618800-57626000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:57618800-57626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:57619000-57626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:57622000-57623400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:57622200-57626200	Weak transcription	NHEK	skin
6	chr5:57622800-57623600	Enhancers	hESC Derived CD184+ Endoderm 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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