Variant report

Variant	rs10954599
Chromosome Location	chr7:137715641-137715642
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10243728	0.89[EUR][1000 genomes]
rs10954597	0.81[AMR][1000 genomes]
rs11977965	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11980668	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13240736	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13245398	0.84[EUR][1000 genomes]
rs2113439	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2352137	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28377187	0.84[EUR][1000 genomes]
rs34080447	0.87[EUR][1000 genomes]
rs35610307	0.84[EUR][1000 genomes]
rs4732282	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4732283	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6944019	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6969540	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs713470	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs730865	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9655905	0.84[EUR][1000 genomes]
rs998767	0.83[EUR][1000 genomes]

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	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137712800-137717600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:137714000-137715800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:137714000-137716600	Enhancers	Hela-S3	cervix
4	chr7:137714000-137716800	Enhancers	Fetal Intestine Large	intestine
5	chr7:137714000-137718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:137714200-137716400	Enhancers	Placenta	Placenta
7	chr7:137714400-137716000	Enhancers	Fetal Intestine Small	intestine
8	chr7:137714400-137718000	Enhancers	GM12878-XiMat	blood
9	chr7:137714600-137716000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:137715000-137716200	Weak transcription	Primary B cells from cord blood	blood
11	chr7:137715000-137717600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:137715000-137717600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:137715200-137716000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:137715200-137716200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:137715400-137716000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:137715600-137716000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:137715600-137716000	Weak transcription	K562	blood

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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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