Variant report

Variant	rs41518250
Chromosome Location	chr1:70052476-70052477
allele	A/G
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:18)

rs_ID	r²[population]
rs12385700	1.00[AMR][1000 genomes]
rs56118325	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58871295	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60763622	1.00[AMR][1000 genomes]
rs61077796	1.00[AMR][1000 genomes]
rs61140885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936518	1.00[AMR][1000 genomes]
rs72936535	0.91[AFR][1000 genomes]
rs72936541	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936584	1.00[AMR][1000 genomes]
rs72936592	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084916	1.00[AMR][1000 genomes]
rs74084920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74084927	0.91[AFR][1000 genomes]
rs74084952	0.87[AFR][1000 genomes];1.00[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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:70035600-70053200	Weak transcription	Pancreas	Pancrea
2	chr1:70050200-70052800	Weak transcription	Fetal Brain Female	brain
3	chr1:70050600-70053200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:70050600-70054200	Weak transcription	Fetal Stomach	stomach
5	chr1:70051400-70053800	Enhancers	Fetal Brain Male	brain
6	chr1:70051600-70053000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:70051600-70055000	Weak transcription	Brain Anterior Caudate	brain
8	chr1:70051600-70061800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:70052200-70054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:70052200-70054600	Weak transcription	Brain Inferior Temporal Lobe	brain

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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

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