Variant report

Variant	rs28488637
Chromosome Location	chr5:147696218-147696219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10037368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10040393	1.00[AMR][1000 genomes]
rs10040505	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10042851	1.00[AMR][1000 genomes]
rs10044087	1.00[AMR][1000 genomes]
rs10045091	1.00[AMR][1000 genomes]
rs10045756	1.00[AMR][1000 genomes]
rs10052377	1.00[AMR][1000 genomes]
rs10056478	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10057961	1.00[AMR][1000 genomes]
rs10065391	1.00[AMR][1000 genomes]
rs10066963	1.00[AMR][1000 genomes]
rs10068025	1.00[AMR][1000 genomes]
rs10068442	1.00[AMR][1000 genomes]
rs10069937	1.00[AMR][1000 genomes]
rs10070008	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10070268	1.00[AMR][1000 genomes]
rs10071193	1.00[AMR][1000 genomes]
rs10072138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077891	1.00[AMR][1000 genomes]
rs10079807	1.00[AMR][1000 genomes]
rs10447230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10476893	1.00[AMR][1000 genomes]
rs10477375	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477377	1.00[AMR][1000 genomes]
rs11953609	1.00[AMR][1000 genomes]
rs12332247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13328218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13356990	1.00[AMR][1000 genomes]
rs28477447	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28503435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57679720	1.00[AMR][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	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv599945	chr5:147649181-147720487	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1801220	chr5:147694648-147705789	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:147689000-147699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147693800-147699600	Weak transcription	Esophagus	oesophagus
3	chr5:147694200-147699600	Weak transcription	Left Ventricle	heart
4	chr5:147695000-147696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:147695000-147699600	Weak transcription	Right Atrium	heart
6	chr5:147695800-147699600	Weak transcription	Ovary	ovary

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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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