Variant report

Variant	rs7570214
Chromosome Location	chr2:100705305-100705306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1437379	0.83[AFR][1000 genomes]
rs17023326	1.00[AMR][1000 genomes]
rs17023456	0.88[AFR][1000 genomes]
rs17023518	1.00[AMR][1000 genomes]
rs4578903	1.00[AMR][1000 genomes]
rs58928934	1.00[AMR][1000 genomes]
rs61365481	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6752954	1.00[AMR][1000 genomes]
rs6760359	1.00[AMR][1000 genomes]
rs72966489	0.81[AFR][1000 genomes]
rs735001	0.88[AFR][1000 genomes]
rs7425800	1.00[AMR][1000 genomes]
rs7560187	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1793611	chr2:100693049-100725966	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv2847	chr2:100695863-100726149	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv963672	chr2:100697382-100722177	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island lncRNA	2 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	chr2:100683200-100719600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:100688400-100710800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:100690000-100720000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:100690000-100721400	Weak transcription	Dnd41	blood
5	chr2:100691400-100715200	Weak transcription	Gastric	stomach
6	chr2:100692800-100719400	Weak transcription	Fetal Brain Female	brain
7	chr2:100692800-100720000	Weak transcription	Ovary	ovary
8	chr2:100693000-100721600	Weak transcription	Fetal Lung	lung
9	chr2:100696800-100711000	Weak transcription	Primary B cells from cord blood	blood
10	chr2:100700200-100720000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:100700200-100720000	Weak transcription	NH-A	brain
12	chr2:100704400-100705600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:100705000-100711800	Weak transcription	Primary B cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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