Variant report

Variant	rs72854812
Chromosome Location	chr2:31274151-31274152
allele	C/G
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:17)

rs_ID	r²[population]
rs58027920	1.00[AMR][1000 genomes]
rs58440641	0.85[AMR][1000 genomes]
rs58823999	1.00[AMR][1000 genomes]
rs60576941	1.00[AMR][1000 genomes]
rs61507719	1.00[AMR][1000 genomes]
rs61555949	0.83[AMR][1000 genomes]
rs6737917	1.00[AMR][1000 genomes]
rs72854807	0.85[AMR][1000 genomes]
rs72854810	1.00[AMR][1000 genomes]
rs72854820	1.00[AMR][1000 genomes]
rs72854827	1.00[AMR][1000 genomes]
rs72854842	1.00[AMR][1000 genomes]
rs72854858	0.83[AMR][1000 genomes]
rs72868777	0.85[AMR][1000 genomes]
rs72868783	1.00[AMR][1000 genomes]
rs72868787	1.00[AMR][1000 genomes]
rs7575804	0.83[AMR][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	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
2	esv10373	chr2:31270402-31274383	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31272200-31275600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:31272800-31274400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:31273000-31274600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr2:31273000-31275600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:31273000-31275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:31273200-31274200	Enhancers	Fetal Kidney	kidney
7	chr2:31273200-31275400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr2:31273200-31275600	Enhancers	Fetal Intestine Small	intestine
9	chr2:31273400-31275200	Weak transcription	Lung	lung
10	chr2:31273400-31275600	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:31273400-31276800	Weak transcription	Pancreas	Pancrea
12	chr2:31273600-31274600	Weak transcription	Primary B cells from cord blood	blood
13	chr2:31273600-31275000	Enhancers	Fetal Intestine Large	intestine
14	chr2:31273800-31275200	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:31274000-31274200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:31274000-31275400	Enhancers	Spleen	Spleen

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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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