Variant report

Variant	rs60205048
Chromosome Location	chr1:86054970-86054971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11161640	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11161642	0.91[EUR][1000 genomes]
rs11161644	0.91[EUR][1000 genomes]
rs12059858	0.91[EUR][1000 genomes]
rs12067136	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12072722	0.91[EUR][1000 genomes]
rs12734475	0.96[EUR][1000 genomes]
rs72944662	0.83[AFR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
3	chr1:86051000-86062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:86052200-86055000	Weak transcription	Osteobl	bone
5	chr1:86053600-86055200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:86053800-86055000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:86053800-86064600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:86053800-86071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:86054000-86057600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:86054800-86055400	Enhancers	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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