Variant report

Variant	rs72854842
Chromosome Location	chr2:31277856-31277857
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs4494792	0.89[AFR][1000 genomes]
rs58027920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58440641	0.85[AMR][1000 genomes]
rs58823999	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60576941	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61507719	1.00[AMR][1000 genomes]
rs61555949	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6737917	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72854807	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72854810	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72854812	1.00[AMR][1000 genomes]
rs72854820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72854827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72854858	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72868777	0.85[AMR][1000 genomes]
rs72868783	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72868787	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575804	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr2:31275000-31281000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:31275400-31278200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:31275400-31278600	Weak transcription	Spleen	Spleen
4	chr2:31275600-31278400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:31276800-31278800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:31277000-31278400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:31277000-31278600	Enhancers	Fetal Kidney	kidney
8	chr2:31277000-31278800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:31277200-31279000	Enhancers	Fetal Intestine Large	intestine
10	chr2:31277400-31278200	Weak transcription	Small Intestine	intestine
11	chr2:31277400-31278400	Weak transcription	Left Ventricle	heart
12	chr2:31277400-31278600	Enhancers	Fetal Heart	heart
13	chr2:31277400-31278800	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:31277400-31278800	Enhancers	Fetal Intestine Small	intestine
15	chr2:31277600-31278200	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:31277600-31280800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:31277800-31278800	Enhancers	Primary hematopoietic stem cells short term culture	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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