Variant report

Variant	rs1604120
Chromosome Location	chr16:59666217-59666218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10083796	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10492918	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1500294	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1500295	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1500297	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1566438	0.81[EUR][1000 genomes]
rs1818069	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1818071	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1827203	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2202009	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2202010	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2202011	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2221183	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4633709	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6500047	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8046365	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8052045	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8063284	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8063752	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs882854	0.80[EUR][1000 genomes]
rs9302715	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9302716	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9921279	0.84[EUR][1000 genomes]
rs9922699	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9926283	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9929021	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9933491	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9934111	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9937266	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9939480	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9940831	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906747	chr16:59385832-60172030	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv916423	chr16:59411801-59750824	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv572832	chr16:59578561-59756567	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv827695	chr16:59617082-59700873	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv9451	chr16:59635240-60032841	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2422221	chr16:59638102-59851643	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59664400-59667800	Weak transcription	Fetal Heart	heart
2	chr16:59665200-59666800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:59665400-59667800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:59665400-59669000	Enhancers	NHDF-Ad	bronchial
5	chr16:59665400-59669800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:59665600-59667400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:59665600-59667400	Enhancers	NHLF	lung
8	chr16:59665600-59667600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr16:59665600-59667600	Enhancers	NH-A	brain
10	chr16:59665600-59668800	Enhancers	Osteobl	bone
11	chr16:59665600-59671800	Enhancers	HUVEC	blood vessel
12	chr16:59665800-59666800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:59665800-59667000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:59665800-59669000	Enhancers	HSMM	muscle
15	chr16:59666000-59668000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:59666000-59669200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:59666200-59666400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr16:59666200-59667400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:59666200-59667600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:59666200-59667600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:59666200-59667600	Weak transcription	A549	lung
22	chr16:59666200-59667600	Enhancers	HSMMtube	muscle

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