Variant report

Variant	rs1474596
Chromosome Location	chr1:186707884-186707885
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10911886	1.00[CHB][hapmap]
rs10911900	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10911901	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10911903	0.81[ASN][1000 genomes]
rs10911904	1.00[CHB][hapmap]
rs10911905	1.00[CHB][hapmap]
rs10911907	0.90[ASN][1000 genomes]
rs10911908	0.90[ASN][1000 genomes]
rs10911909	0.81[ASN][1000 genomes]
rs10911910	0.90[ASN][1000 genomes]
rs10911911	0.90[ASN][1000 genomes]
rs1119066	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1119230	0.90[ASN][1000 genomes]
rs1119231	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs11583191	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs11584118	0.81[ASN][1000 genomes]
rs12057695	1.00[CHB][hapmap]
rs12064238	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12076624	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12084433	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12089049	0.81[ASN][1000 genomes]
rs12401885	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12402603	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12405541	0.81[ASN][1000 genomes]
rs12409744	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs20417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs20432	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2066826	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2143416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2143417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2179555	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2383515	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2383516	0.81[ASN][1000 genomes]
rs2383529	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4422959	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4648250	0.82[CHB][hapmap]
rs4648276	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4648306	0.81[ASN][1000 genomes]
rs4648308	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61532952	0.81[ASN][1000 genomes]
rs66494422	0.81[ASN][1000 genomes]
rs6665419	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6666199	0.90[ASN][1000 genomes]
rs6685280	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6698048	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67804662	0.81[ASN][1000 genomes]
rs67816471	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs68096880	0.81[ASN][1000 genomes]
rs689465	0.90[ASN][1000 genomes]
rs72721568	0.90[ASN][1000 genomes]
rs7512750	1.00[CHB][hapmap]
rs964571	0.81[ASN][1000 genomes]
rs9783017	0.81[ASN][1000 genomes]
rs9783052	0.86[AMR][1000 genomes];0.97[ASN][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv466261	chr1:186652395-186742947	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv548405	chr1:186652395-186742947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186704200-186709400	Enhancers	HMEC	breast
2	chr1:186706800-186709400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:186707000-186708400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:186707000-186708400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:186707400-186708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:186707600-186708000	Weak transcription	NHEK	skin
7	chr1:186707600-186708400	Enhancers	Fetal Lung	lung
8	chr1:186707800-186708200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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