Variant report

Variant	rs12630482
Chromosome Location	chr3:86837468-86837469
allele	A/C
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:25)

rs_ID	r²[population]
rs11127949	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11919681	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11921125	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922358	0.94[EUR][1000 genomes]
rs11927475	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11927542	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12485533	1.00[EUR][1000 genomes]
rs12488372	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12492726	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12629823	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1898334	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2324792	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4462968	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4855173	0.81[AFR][1000 genomes]
rs57907838	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60847889	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62256906	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62256908	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62256909	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62258569	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62258640	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62264088	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62264090	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6799589	0.94[EUR][1000 genomes]
rs6803489	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877116	chr3:86518318-86964922	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv877117	chr3:86665408-86927574	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv877118	chr3:86722823-86927574	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv877119	chr3:86722823-86952516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv877120	chr3:86722823-86961118	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv877121	chr3:86732817-86916882	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv877122	chr3:86732817-86927574	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv877123	chr3:86732817-86952516	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv877125	chr3:86794501-86916882	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv877126	chr3:86794501-86927574	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv519148	chr3:86831077-86995124	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv877127	chr3:86832039-86952516	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86832000-86842400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:86834400-86838200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:86835000-86840000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:86835000-86841600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:86835400-86837600	Enhancers	HSMMtube	muscle
6	chr3:86835400-86840200	Weak transcription	Fetal Lung	lung
7	chr3:86835600-86841600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:86836000-86838000	Enhancers	NH-A	brain
9	chr3:86836600-86838200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:86836600-86840200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:86836600-86841200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:86836600-86841600	Weak transcription	NHLF	lung
13	chr3:86836600-86864400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:86836800-86838600	Weak transcription	Hela-S3	cervix
15	chr3:86836800-86841600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:86836800-86842200	Weak transcription	A549	lung
17	chr3:86837000-86841400	Weak transcription	HSMM	muscle
18	chr3:86837000-86841600	Weak transcription	Osteobl	bone

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