Variant report

Variant	rs1146478
Chromosome Location	chr1:95047520-95047521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10399782	1.00[EUR][1000 genomes]
rs1146475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146479	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146483	0.85[AFR][1000 genomes]
rs1146486	0.85[AFR][1000 genomes]
rs1146499	0.84[AFR][1000 genomes]
rs1146503	0.83[AFR][1000 genomes]
rs1146504	0.85[AFR][1000 genomes]
rs1146506	1.00[EUR][1000 genomes]
rs1146508	0.85[AFR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs11801203	1.00[EUR][1000 genomes]
rs11801251	1.00[EUR][1000 genomes]
rs12064943	1.00[EUR][1000 genomes]
rs12065028	1.00[EUR][1000 genomes]
rs1303133	0.85[AFR][1000 genomes]
rs1303136	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1343483	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1361124	1.00[EUR][1000 genomes]
rs1577920	1.00[EUR][1000 genomes]
rs1617719	1.00[EUR][1000 genomes]
rs1687938	1.00[EUR][1000 genomes]
rs1687939	1.00[EUR][1000 genomes]
rs1687942	1.00[EUR][1000 genomes]
rs1687945	1.00[EUR][1000 genomes]
rs1687953	1.00[EUR][1000 genomes]
rs1687969	1.00[EUR][1000 genomes]
rs1747648	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1747656	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1747658	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1749540	1.00[EUR][1000 genomes]
rs1765616	1.00[EUR][1000 genomes]
rs1765625	1.00[EUR][1000 genomes]
rs1765631	1.00[EUR][1000 genomes]
rs1765633	1.00[EUR][1000 genomes]
rs1765634	1.00[EUR][1000 genomes]
rs1765653	1.00[EUR][1000 genomes]
rs1772902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1778210	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1778224	0.85[AFR][1000 genomes]
rs2094824	1.00[EUR][1000 genomes]
rs2798944	1.00[EUR][1000 genomes]
rs2971948	1.00[EUR][1000 genomes]
rs479627	1.00[EUR][1000 genomes]
rs484420	1.00[EUR][1000 genomes]
rs4847315	1.00[EUR][1000 genomes]
rs512648	1.00[EUR][1000 genomes]
rs513976	1.00[EUR][1000 genomes]
rs529642	1.00[EUR][1000 genomes]
rs598962	1.00[EUR][1000 genomes]
rs610088	1.00[EUR][1000 genomes]
rs630382	1.00[EUR][1000 genomes]
rs6660037	1.00[EUR][1000 genomes]
rs698945	1.00[EUR][1000 genomes]
rs768967	1.00[EUR][1000 genomes]
rs860909	1.00[EUR][1000 genomes]

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	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95044200-95048400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:95044400-95048200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr1:95044400-95048400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:95044400-95048400	Enhancers	HMEC	breast
5	chr1:95046000-95065400	Weak transcription	Fetal Intestine Large	intestine
6	chr1:95046400-95048800	Enhancers	Hela-S3	cervix
7	chr1:95046400-95055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:95047000-95047600	ZNF genes & repeats	NHEK	skin
9	chr1:95047000-95048200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:95047000-95048400	Enhancers	Aorta	Aorta
11	chr1:95047000-95055800	Weak transcription	NHLF	lung
12	chr1:95047400-95051600	Weak transcription	HSMMtube	muscle

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