Variant report

Variant	rs4916283
Chromosome Location	chr1:172854334-172854335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489276	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10912488	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10912490	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912491	0.83[EUR][1000 genomes]
rs12021711	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12025176	0.82[EUR][1000 genomes]
rs12037853	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12047983	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12136659	0.84[EUR][1000 genomes]
rs12403628	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12411259	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12728265	0.91[EUR][1000 genomes]
rs12739009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12747422	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12748081	0.91[EUR][1000 genomes]
rs2157453	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2157454	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2187892	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2213742	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2213745	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35715673	0.91[EUR][1000 genomes]
rs4145468	0.83[EUR][1000 genomes]
rs4916198	0.87[EUR][1000 genomes]
rs4916285	0.83[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55724017	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6425143	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6425145	0.94[EUR][1000 genomes]
rs6425146	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6661686	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6672776	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6699678	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68143871	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517810	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7527462	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9286879	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3587	chr1:172836950-172882218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:172840600-172855200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:172850600-172856800	Enhancers	HUVEC	blood vessel
3	chr1:172852000-172855600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:172852000-172855600	Enhancers	HSMM	muscle
5	chr1:172852200-172854800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:172852200-172855200	Enhancers	HSMMtube	muscle
7	chr1:172852200-172855400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:172852200-172855400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:172852200-172855600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:172852400-172855800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:172852600-172862400	Weak transcription	Pancreas	Pancrea
12	chr1:172852800-172854600	Weak transcription	Right Atrium	heart
13	chr1:172852800-172857000	Enhancers	Stomach Mucosa	stomach
14	chr1:172853200-172854600	Weak transcription	NHLF	lung
15	chr1:172853200-172855600	Enhancers	Osteobl	bone
16	chr1:172853400-172854600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:172853400-172855200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:172853400-172855200	Weak transcription	NH-A	brain
19	chr1:172853600-172854400	Weak transcription	Psoas Muscle	Psoas
20	chr1:172854000-172854800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:172854000-172855400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:172854200-172855600	Enhancers	Hela-S3	cervix
23	chr1:172854200-172855600	Enhancers	NHDF-Ad	bronchial

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