Variant report

Variant	rs60701947
Chromosome Location	chr11:18698565-18698566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16935626	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58088308	0.85[AMR][1000 genomes]
rs58298594	0.83[AMR][1000 genomes]
rs59616087	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59965930	1.00[AMR][1000 genomes]
rs7116232	1.00[AMR][1000 genomes]
rs7118958	1.00[AMR][1000 genomes]
rs73426408	1.00[AMR][1000 genomes]
rs73426427	0.85[AMR][1000 genomes]
rs73426461	0.85[AMR][1000 genomes]
rs73426477	1.00[AMR][1000 genomes]
rs7926101	1.00[AMR][1000 genomes]
rs7930849	0.85[AMR][1000 genomes]
rs7947182	0.85[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	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr11:18687000-18719800	Weak transcription	Ovary	ovary
2	chr11:18694400-18700600	Weak transcription	Primary T cells from cord blood	blood
3	chr11:18695000-18699000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:18696000-18700800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:18696000-18701000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:18697600-18700800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:18697800-18699600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:18698000-18699400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:18698000-18699400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:18698000-18699400	Enhancers	NHEK	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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