Variant report

Variant	rs11991614
Chromosome Location	chr8:54439309-54439310
allele	C/G
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:12)

rs_ID	r²[population]
rs10090582	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10093741	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10095837	1.00[ASN][1000 genomes]
rs11992458	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439440	0.97[ASN][1000 genomes]
rs16919245	0.81[ASN][1000 genomes]
rs2376143	1.00[ASN][1000 genomes]
rs28587342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28649694	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59216865	0.81[ASN][1000 genomes]
rs6473841	0.86[AMR][1000 genomes];0.81[EUR][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	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54436400-54441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:54437200-54441800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:54437200-54441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:54437400-54441600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:54437600-54440400	Weak transcription	Osteobl	bone
6	chr8:54437600-54441200	Weak transcription	HMEC	breast
7	chr8:54437600-54441400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:54437800-54440400	Weak transcription	Fetal Heart	heart
9	chr8:54437800-54441800	Weak transcription	Esophagus	oesophagus
10	chr8:54437800-54441800	Weak transcription	Ovary	ovary
11	chr8:54438000-54440400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:54438800-54440200	Enhancers	A549	lung

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links