Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11712475	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11716284	1.00[JPT][hapmap]
rs11716674	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11718407	0.90[ASN][1000 genomes]
rs12489940	1.00[ASN][1000 genomes]
rs12493260	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12493623	0.95[ASN][1000 genomes]
rs12630117	0.91[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1449336	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076707	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4076709	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4373100	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4408898	0.95[ASN][1000 genomes]
rs4428220	0.95[ASN][1000 genomes]
rs4428221	0.95[ASN][1000 genomes]
rs4928001	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4928004	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs6445630	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765381	0.90[CEU][hapmap]
rs6809942	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085903	1.00[ASN][1000 genomes]
rs73085927	0.90[ASN][1000 genomes]
rs7639142	0.95[ASN][1000 genomes]
rs9880023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
3	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014157	chr3:54168755-54332321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:54181000-54195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:54192000-54192600	Enhancers	Stomach Smooth Muscle	stomach
3	chr3:54192000-54192800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:54192000-54193000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr3:54192000-54193200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:54192000-54193800	Enhancers	Ovary	ovary
7	chr3:54192200-54192600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:54192200-54192600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:54192200-54193200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:54192200-54193200	Enhancers	HepG2	liver
11	chr3:54192400-54192600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:54192400-54193000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:54192400-54193000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:54192400-54193000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr3:54192400-54193200	Enhancers	Colon Smooth Muscle	Colon

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