Variant report

Variant	rs280943
Chromosome Location	chr13:30194831-30194832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1104261	0.81[AFR][1000 genomes]
rs2089944	0.81[AFR][1000 genomes]
rs2263207	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2669028	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2776418	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs280905	0.81[ASN][1000 genomes]
rs280907	0.81[ASN][1000 genomes]
rs280908	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs280941	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs280942	0.99[ASN][1000 genomes]
rs280944	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs280945	0.98[ASN][1000 genomes]
rs482876	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs489679	0.81[ASN][1000 genomes]
rs517178	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs524368	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs529739	0.81[ASN][1000 genomes]
rs535141	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs538385	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs550984	0.81[ASN][1000 genomes]
rs563630	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs565279	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs566736	0.98[ASN][1000 genomes]
rs570095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs571899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs573080	0.81[AFR][1000 genomes]
rs590377	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs606753	0.99[ASN][1000 genomes]
rs61947189	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs630273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648326	0.81[ASN][1000 genomes]
rs819400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs819401	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs819406	0.81[AFR][1000 genomes]
rs9506207	0.91[ASN][1000 genomes]
rs9508515	0.90[ASN][1000 genomes]
rs9551710	0.91[ASN][1000 genomes]
rs9551714	0.81[AFR][1000 genomes];0.81[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	nsv528336	chr13:30194288-30226498	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30193400-30196400	Enhancers	NHDF-Ad	bronchial
2	chr13:30193800-30196400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr13:30193800-30197000	Enhancers	Osteobl	bone
4	chr13:30194000-30195600	Enhancers	HSMM	muscle
5	chr13:30194200-30195600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:30194200-30195600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:30194200-30196400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:30194400-30196600	Enhancers	NHEK	skin
9	chr13:30194600-30195000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:30194600-30195000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:30194600-30196400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:30194800-30195200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:30194800-30195600	Enhancers	NH-A	brain
14	chr13:30194800-30195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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