Variant report

Variant	rs72817062
Chromosome Location	chr2:100332174-100332175
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10183116	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10185240	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10189976	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10205134	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13387031	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13400157	0.81[AFR][1000 genomes]
rs13431170	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13431191	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2177540	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2309724	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2309725	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4325808	0.82[EUR][1000 genomes]
rs4384839	0.84[EUR][1000 genomes]
rs4410333	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4851222	0.84[EUR][1000 genomes]
rs6542886	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6542889	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6758962	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7557598	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7560182	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs870560	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9308828	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][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	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	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
3	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:100315000-100336800	Weak transcription	Aorta	Aorta
4	chr2:100322000-100340000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:100327400-100334600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:100327800-100344400	Weak transcription	Ovary	ovary
7	chr2:100328000-100336600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:100328000-100338200	Weak transcription	Fetal Lung	lung
9	chr2:100328200-100332600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:100328800-100333000	Weak transcription	Fetal Brain Female	brain
11	chr2:100329000-100339200	Weak transcription	Fetal Brain Male	brain
12	chr2:100330600-100334600	Strong transcription	Primary B cells from cord blood	blood
13	chr2:100331600-100338800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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