Variant report

Variant	rs56990459
Chromosome Location	chr7:129625680-129625681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10231719	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62489404	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467273	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6467274	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975656	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6975965	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7778194	0.80[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129598800-129629600	Weak transcription	Right Atrium	heart
2	chr7:129621400-129630600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129622400-129630400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:129624200-129629600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:129624200-129630400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:129624400-129627400	Weak transcription	Placenta	Placenta
7	chr7:129624800-129629600	Weak transcription	NH-A	brain
8	chr7:129625000-129628800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:129625000-129629400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:129625000-129629400	Weak transcription	NHEK	skin
11	chr7:129625000-129629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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