Variant report

Variant	rs9448954
Chromosome Location	chr6:81135255-81135256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs56773466	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56920849	0.84[AFR][1000 genomes]
rs58341988	0.84[AFR][1000 genomes]
rs59184742	0.84[AFR][1000 genomes]
rs59688459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60733634	0.84[AFR][1000 genomes]
rs61159972	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6901881	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6927815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6932027	0.84[AFR][1000 genomes]
rs6939318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7746091	0.84[AFR][1000 genomes]
rs9294176	0.94[AFR][1000 genomes]
rs9443753	0.84[AFR][1000 genomes]
rs9443755	0.84[AFR][1000 genomes]
rs9443759	0.84[AFR][1000 genomes]
rs9443760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443763	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443764	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9443769	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448947	1.00[AMR][1000 genomes]
rs9448952	0.84[AFR][1000 genomes]
rs9448953	0.84[AFR][1000 genomes]
rs9448957	0.84[AFR][1000 genomes]
rs9448958	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448960	0.84[AFR][1000 genomes]
rs9448964	0.84[AFR][1000 genomes]
rs9448965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448970	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448971	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448972	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448981	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9448982	0.86[AFR][1000 genomes];1.00[AMR][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	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81132400-81135400	Weak transcription	Liver	Liver
2	chr6:81132400-81135600	Weak transcription	Aorta	Aorta
3	chr6:81132400-81142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:81133400-81135400	Enhancers	NHDF-Ad	bronchial
5	chr6:81133400-81136000	Enhancers	HSMM	muscle
6	chr6:81133600-81135400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:81133600-81136000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:81133800-81135800	Enhancers	NHLF	lung
9	chr6:81134200-81136000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:81134200-81136000	Enhancers	Osteobl	bone
11	chr6:81134400-81135400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:81134400-81135800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:81134400-81135800	Enhancers	HMEC	breast
14	chr6:81134400-81136000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:81134600-81135400	Enhancers	NHEK	skin
16	chr6:81134600-81135800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:81134600-81135800	Enhancers	HSMMtube	muscle
18	chr6:81134800-81135400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:81134800-81135800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:81134800-81135800	Enhancers	NH-A	brain
21	chr6:81135000-81135600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:81135000-81135800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:81135200-81135800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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