Variant report

Variant	rs9917330
Chromosome Location	chr2:187875662-187875663
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10427368	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11887206	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11890941	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11891683	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11893645	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11893647	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11894499	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900420	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904790	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35502627	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875554	chr2:187873808-187964942	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187868800-187877000	Weak transcription	Placenta	Placenta
2	chr2:187874600-187876600	Enhancers	HMEC	breast
3	chr2:187874800-187876600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:187875400-187875800	Weak transcription	NHEK	skin
5	chr2:187875600-187875800	Enhancers	Psoas Muscle	Psoas
6	chr2:187875600-187876000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:187875600-187876400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	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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