Variant report

Variant	rs1481631
Chromosome Location	chr3:98688022-98688023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1062196	0.83[CHB][hapmap]
rs10935514	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs12054181	0.83[CHB][hapmap]
rs12632798	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs13316760	0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1371687	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs1837500	0.83[CHB][hapmap]
rs1866677	0.82[CHB][hapmap]
rs1866678	0.83[CHB][hapmap]
rs1967009	0.88[CHB][hapmap]
rs2062058	0.89[CEU][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2119187	0.83[CHB][hapmap]
rs2119188	0.81[CHB][hapmap]
rs2170404	0.81[ASN][1000 genomes]
rs2246861	0.83[CHB][hapmap]
rs2439222	0.83[CHB][hapmap]
rs2439223	0.83[CHB][hapmap]
rs2439231	0.83[CHB][hapmap]
rs2439236	0.83[CHB][hapmap]
rs2439237	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2454673	0.83[CHB][hapmap]
rs2454685	0.83[CHB][hapmap]
rs2470770	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2470825	0.83[CHB][hapmap]
rs2470853	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470855	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470857	0.88[CHB][hapmap]
rs2470859	0.83[CHB][hapmap]
rs2470867	0.83[CHB][hapmap]
rs2470869	0.83[CHB][hapmap]
rs2470870	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470872	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2470881	0.83[CHB][hapmap]
rs2470885	0.83[CHB][hapmap]
rs278376	0.89[JPT][hapmap]
rs278379	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs278380	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs278381	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs278382	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs278387	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs278388	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs278390	1.00[JPT][hapmap]
rs6774875	0.92[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6782630	0.83[CHB][hapmap]
rs6785935	0.83[CHB][hapmap]
rs7615628	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7615856	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs828605	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs828610	1.00[JPT][hapmap]
rs828614	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs828616	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs828617	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs828621	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs852701	0.83[CHB][hapmap]
rs870202	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8833	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs9289683	0.83[CHB][hapmap]
rs955351	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs9811860	0.83[CHB][hapmap]
rs9814819	0.83[CHB][hapmap]
rs9823430	0.83[CHB][hapmap]
rs9835142	0.83[CHB][hapmap]
rs9837206	0.83[ASN][1000 genomes]
rs9843214	0.83[CHB][hapmap]
rs9852950	0.82[CHB][hapmap]
rs9873932	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1481631	DCBLD2	cis	Artery Tibial	GTEx
rs1481631	DCBLD2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98683800-98690000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:98684400-98690200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:98684400-98690200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:98684800-98689400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:98685200-98690400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:98685200-98690400	Enhancers	HUVEC	blood vessel
7	chr3:98686200-98690200	Weak transcription	HSMM	muscle
8	chr3:98686400-98689800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:98686400-98692000	Enhancers	NHEK	skin
10	chr3:98686800-98690200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:98687000-98688800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:98687000-98692000	Enhancers	NHDF-Ad	bronchial
13	chr3:98687200-98688200	Enhancers	HMEC	breast
14	chr3:98687200-98690400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:98687400-98688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:98687600-98690000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:98687800-98690200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:98688000-98688200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:98688000-98688800	Enhancers	A549	lung
20	chr3:98688000-98689000	Weak transcription	NH-A	brain
21	chr3:98688000-98689000	Weak transcription	Osteobl	bone
22	chr3:98688000-98689200	Weak transcription	NHLF	lung

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