Variant report

Variant	rs9596008
Chromosome Location	chr13:49365926-49365927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10220120	0.81[AFR][1000 genomes]
rs10220151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11840346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11840607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57408197	0.81[AFR][1000 genomes]
rs57623504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60826934	0.81[AFR][1000 genomes]
rs74074768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316412	0.83[AFR][1000 genomes]
rs9316413	0.83[AFR][1000 genomes]
rs9591212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591214	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595999	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596012	1.00[EUR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49364400-49366800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:49364400-49366800	Enhancers	Hela-S3	cervix
3	chr13:49364400-49367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:49364800-49366800	Enhancers	NHDF-Ad	bronchial
5	chr13:49365000-49366800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:49365200-49366600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:49365200-49366800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr13:49365200-49366800	Enhancers	HMEC	breast
9	chr13:49365200-49366800	Enhancers	NH-A	brain
10	chr13:49365200-49366800	Enhancers	NHLF	lung
11	chr13:49365200-49366800	Enhancers	Osteobl	bone
12	chr13:49365400-49366000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:49365400-49366000	Enhancers	Lung	lung
14	chr13:49365400-49366400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:49365400-49366400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr13:49365400-49366600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:49365400-49366600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:49365400-49366600	Enhancers	HSMM	muscle
19	chr13:49365400-49366600	Enhancers	HSMMtube	muscle
20	chr13:49365400-49366600	Enhancers	NHEK	skin
21	chr13:49365600-49366000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr13:49365600-49366400	Enhancers	HUVEC	blood vessel
23	chr13:49365600-49366600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:49365600-49366800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:49365800-49366200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr13:49365800-49366400	Enhancers	A549	lung
27	chr13:49365800-49366600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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