Variant report

Variant	rs1093774
Chromosome Location	chr13:30253730-30253731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1023162	0.93[ASN][1000 genomes]
rs1023163	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1104261	0.87[EUR][1000 genomes]
rs12428341	0.96[ASN][1000 genomes]
rs17073936	0.89[JPT][hapmap]
rs182178	0.89[JPT][hapmap]
rs1886170	0.89[JPT][hapmap]
rs2089944	0.89[EUR][1000 genomes]
rs2234417	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2388240	0.90[ASN][1000 genomes]
rs2388243	0.84[ASN][1000 genomes]
rs2388244	0.89[JPT][hapmap]
rs2669033	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2776951	0.89[EUR][1000 genomes]
rs278037	0.88[JPT][hapmap]
rs280920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280921	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280948	0.96[ASN][1000 genomes]
rs280957	0.93[ASN][1000 genomes]
rs280958	0.93[ASN][1000 genomes]
rs280959	0.96[ASN][1000 genomes]
rs280960	0.93[ASN][1000 genomes]
rs35803474	0.89[ASN][1000 genomes]
rs4769774	0.89[JPT][hapmap]
rs542930	0.89[ASN][1000 genomes]
rs547522	0.93[ASN][1000 genomes]
rs563819	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566688	0.96[ASN][1000 genomes]
rs573080	0.88[EUR][1000 genomes]
rs598281	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs73157112	0.81[ASN][1000 genomes]
rs7326804	0.81[ASN][1000 genomes]
rs819102	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs819104	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs819406	0.89[EUR][1000 genomes]
rs819408	0.89[EUR][1000 genomes]
rs943564	0.90[ASN][1000 genomes]
rs9508556	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510577	chr13:30213612-30254316	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30250000-30256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30251400-30255800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:30252000-30253800	Enhancers	NHEK	skin
4	chr13:30252200-30254000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:30252200-30255800	Weak transcription	NHDF-Ad	bronchial
6	chr13:30252800-30257600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:30252800-30257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:30253000-30254200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr13:30253000-30256200	Enhancers	Fetal Brain Male	brain
10	chr13:30253400-30254000	Enhancers	Fetal Heart	heart
11	chr13:30253600-30253800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:30253600-30253800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:30253600-30254000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr13:30253600-30254200	Enhancers	Fetal Brain Female	brain
15	chr13:30253600-30254800	Enhancers	Spleen	Spleen

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