Variant report

Variant	rs11999970
Chromosome Location	chr9:21677313-21677314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13287072	0.83[ASN][1000 genomes]
rs1478058	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938532	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16938533	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2020334	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2020344	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2039584	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2039585	0.82[ASN][1000 genomes]
rs2083560	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2383200	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2383201	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2891163	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4307419	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6475544	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6475546	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7021741	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7028436	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7028637	0.83[ASN][1000 genomes]
rs7028950	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7029077	0.83[ASN][1000 genomes]
rs7035252	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7035284	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7852691	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7860632	0.83[ASN][1000 genomes]
rs7865502	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7866337	0.87[ASN][1000 genomes]
rs7866521	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs921560	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][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	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015623	chr9:21579110-21694039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv892742	chr9:21589041-21707372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892743	chr9:21675545-21772064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21673000-21679400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:21674200-21677600	Enhancers	HMEC	breast
3	chr9:21674200-21678200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:21674400-21677600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:21674600-21677400	Enhancers	NHEK	skin
6	chr9:21674600-21677600	Enhancers	NHDF-Ad	bronchial
7	chr9:21674800-21677400	Enhancers	HUVEC	blood vessel
8	chr9:21674800-21677600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr9:21675000-21677400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:21675000-21677600	Enhancers	Osteobl	bone
11	chr9:21675600-21677600	Weak transcription	NH-A	brain
12	chr9:21675800-21677600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:21676200-21678600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:21676600-21677400	Weak transcription	NHLF	lung
15	chr9:21676800-21677400	Enhancers	A549	lung
16	chr9:21676800-21677600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:21677200-21677400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:21677200-21677400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:21677200-21679200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:21677200-21684600	Enhancers	Hela-S3	cervix

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