Variant report

Variant	rs72975995
Chromosome Location	chr2:127523820-127523821
allele	G/T
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:6)

rs_ID	r²[population]
rs28387123	1.00[AMR][1000 genomes]
rs60352243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72976002	1.00[AMR][1000 genomes]
rs72977830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72977835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72977874	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127520400-127524400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr2:127520400-127524400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr2:127521000-127525400	Enhancers	Primary T cells from cord blood	blood
4	chr2:127523000-127524000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:127523000-127524000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr2:127523000-127524200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:127523000-127524400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:127523200-127524200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:127523200-127524400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:127523600-127524200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:127523600-127524200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:127523800-127526800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:127523800-127533800	Weak transcription	Primary T helper memory cells from peripheral blood 1	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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