Variant report

Variant	rs60560514
Chromosome Location	chr2:111808830-111808831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17041838	0.82[AFR][1000 genomes]
rs34121532	0.91[AFR][1000 genomes]
rs35875858	0.91[AFR][1000 genomes]
rs36091399	0.91[AFR][1000 genomes]
rs73954915	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111787800-111825400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:111806600-111813400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:111806800-111809000	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr2:111806800-111809800	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:111806800-111810600	Enhancers	Primary T cells from cord blood	blood
6	chr2:111807000-111809200	Enhancers	Primary B cells from cord blood	blood
7	chr2:111807200-111810000	Enhancers	GM12878-XiMat	blood
8	chr2:111807200-111812600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:111807800-111809200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:111807800-111810400	Weak transcription	Fetal Heart	heart
11	chr2:111807800-111811600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:111808200-111812400	Weak transcription	Fetal Kidney	kidney
13	chr2:111808400-111812600	Weak transcription	Pancreas	Pancrea
14	chr2:111808400-111812800	Weak transcription	Thymus	Thymus
15	chr2:111808600-111811600	Weak transcription	Fetal Thymus	thymus
16	chr2:111808600-111812800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:111808800-111811600	Weak transcription	Primary T killer naive cells 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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