Variant report

Variant	rs56118689
Chromosome Location	chr2:100418157-100418158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10175788	0.91[AFR][1000 genomes]
rs10182690	0.98[AFR][1000 genomes]
rs2115601	0.98[AFR][1000 genomes]
rs2163044	0.88[AFR][1000 genomes]
rs4851232	0.83[AFR][1000 genomes]
rs4851234	0.89[AFR][1000 genomes]
rs6705966	0.98[AFR][1000 genomes]
rs6721652	0.83[AFR][1000 genomes]
rs6732358	0.95[AFR][1000 genomes]
rs73964314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7565155	0.98[AFR][1000 genomes]
rs7573572	0.80[AFR][1000 genomes]
rs7604536	0.98[AFR][1000 genomes]
rs9308829	0.83[AFR][1000 genomes]
rs940458	0.88[AFR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1010971	chr2:100387986-100431935	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100415400-100418800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:100415400-100423400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:100416400-100422800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:100417000-100418200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:100417600-100420000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:100417800-100418200	Enhancers	Fetal Lung	lung
7	chr2:100417800-100419800	Enhancers	Primary monocytes fromperipheralblood	blood

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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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