Variant report

Variant	rs28690117
Chromosome Location	chr4:147081512-147081513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10004526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10015395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025326	1.00[EUR][1000 genomes]
rs10029477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17021188	1.00[EUR][1000 genomes]
rs17021203	1.00[EUR][1000 genomes]
rs28418629	1.00[EUR][1000 genomes]
rs28590167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28896315	1.00[EUR][1000 genomes]
rs6851811	1.00[EUR][1000 genomes]
rs9993608	1.00[EUR][1000 genomes]
rs9993900	1.00[AMR][1000 genomes];1.00[EUR][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	nsv461674	chr4:147047072-147143572	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv595650	chr4:147047072-147143572	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1018859	chr4:147055618-147138397	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147080800-147081600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr4:147080800-147082000	Enhancers	Adipose Nuclei	Adipose
3	chr4:147081000-147081600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:147081000-147081800	Enhancers	Fetal Intestine Small	intestine
5	chr4:147081400-147081600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:147081400-147082400	Weak transcription	GM12878-XiMat	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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