Variant report

Variant	rs12995420
Chromosome Location	chr2:100652578-100652579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10209110	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10211595	0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1062143	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11123804	0.97[ASN][1000 genomes]
rs11123805	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1115910	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11681737	0.89[ASN][1000 genomes]
rs11685341	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12712062	0.96[ASN][1000 genomes]
rs12712063	0.93[ASN][1000 genomes]
rs12996621	0.81[ASN][1000 genomes]
rs12997584	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13033732	0.81[ASN][1000 genomes]
rs1370356	0.92[ASN][1000 genomes]
rs1821828	0.91[ASN][1000 genomes]
rs1821829	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2309748	0.91[ASN][1000 genomes]
rs2576678	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2871326	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34040706	0.81[ASN][1000 genomes]
rs35730185	0.81[ASN][1000 genomes]
rs35774174	0.81[ASN][1000 genomes]
rs6542905	0.99[ASN][1000 genomes]
rs6714788	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733895	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6750720	0.89[ASN][1000 genomes]
rs6754099	0.96[ASN][1000 genomes]
rs7558817	0.99[ASN][1000 genomes]
rs7582731	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7599083	0.97[ASN][1000 genomes]
rs7605430	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9308833	0.94[ASN][1000 genomes]
rs961788	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:100633600-100653000	Weak transcription	Fetal Lung	lung
3	chr2:100633600-100660600	Weak transcription	Lung	lung
4	chr2:100637200-100658400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:100639000-100660600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:100639600-100657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:100644600-100668400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:100646400-100662600	Weak transcription	Gastric	stomach
9	chr2:100648200-100666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:100650600-100656800	Weak transcription	Fetal Brain Female	brain
11	chr2:100651200-100653000	Strong transcription	Primary B cells from cord blood	blood
12	chr2:100651800-100659600	Weak transcription	Left Ventricle	heart
13	chr2:100652000-100652600	Weak transcription	Fetal Brain Male	brain
14	chr2:100652000-100656200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:100652400-100652800	Enhancers	Ovary	ovary

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