Variant report

Variant	rs72817037
Chromosome Location	chr2:100248821-100248822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10496338	1.00[AFR][1000 genomes]
rs12466624	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12467621	1.00[AFR][1000 genomes]
rs12468845	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12712051	1.00[ASN][1000 genomes]
rs28369939	1.00[AFR][1000 genomes]
rs4850907	1.00[ASN][1000 genomes]
rs6718629	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72817082	1.00[AFR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:100236800-100249600	Weak transcription	Thymus	Thymus
4	chr2:100237800-100249400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:100238000-100253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:100238800-100252600	Weak transcription	Fetal Lung	lung
7	chr2:100239600-100257200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:100240600-100249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:100242200-100249800	Weak transcription	Pancreas	Pancrea
10	chr2:100242800-100253000	Weak transcription	Fetal Brain Female	brain
11	chr2:100245800-100249400	Strong transcription	Primary B cells from cord blood	blood
12	chr2:100247600-100249600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:100247600-100252000	Weak transcription	Right Atrium	heart
14	chr2:100247800-100250000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:100248600-100249000	Enhancers	Fetal Muscle Trunk	muscle

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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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