Variant report

Variant	rs2513601
Chromosome Location	chr11:106295323-106295324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1553938	0.97[ASN][1000 genomes]
rs2036964	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458325	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2458326	0.89[ASN][1000 genomes]
rs2458327	0.96[ASN][1000 genomes]
rs2458335	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2458336	0.82[ASN][1000 genomes]
rs2458339	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2458340	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2458342	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2458346	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513602	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513608	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513609	0.83[ASN][1000 genomes]
rs2513610	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2942229	0.97[ASN][1000 genomes]
rs2942230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907648	0.91[ASN][1000 genomes]
rs953816	0.96[ASN][1000 genomes]
rs975377	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs975392	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs975393	0.90[ASN][1000 genomes]
rs975394	0.90[ASN][1000 genomes]
rs975395	0.90[ASN][1000 genomes]
rs994791	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1054471	chr11:106168484-106427713	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr11:106286600-106295600	Weak transcription	Pancreas	Pancrea
2	chr11:106292200-106297000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:106292600-106295600	Enhancers	NHEK	skin
4	chr11:106293400-106295400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:106293600-106295800	Enhancers	HMEC	breast
6	chr11:106293800-106295600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:106294000-106295800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:106294000-106295800	Enhancers	NHDF-Ad	bronchial
9	chr11:106294200-106295600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:106294200-106295600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:106294400-106295400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:106294400-106295600	Enhancers	NHLF	lung
13	chr11:106294400-106295800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:106294400-106296200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:106294600-106295400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:106294600-106295600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:106294600-106295600	Enhancers	NH-A	brain
18	chr11:106295000-106295600	Enhancers	Brain Anterior Caudate	brain
19	chr11:106295200-106295400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:106295200-106296000	Enhancers	Osteobl	bone

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