Variant report

Variant	rs4284973
Chromosome Location	chr3:118913054-118913055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10511383	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921352	1.00[ASN][1000 genomes]
rs12487934	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493956	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829569	1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829641	0.84[MEX][hapmap]
rs17203062	1.00[ASN][1000 genomes]
rs4422292	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4501106	0.85[AMR][1000 genomes]
rs4568125	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776910	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784208	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7428178	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614907	1.00[ASN][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv527259	chr3:118906442-118916627	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118884000-118914200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:118901000-118924200	Weak transcription	Pancreas	Pancrea
3	chr3:118903400-118924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:118904600-118936400	Weak transcription	Gastric	stomach
5	chr3:118904800-118914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:118908400-118928200	Weak transcription	Fetal Stomach	stomach
7	chr3:118908600-118914000	Weak transcription	Aorta	Aorta
8	chr3:118909200-118914800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:118910800-118913400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:118911800-118932600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:118912600-118915200	Enhancers	NHDF-Ad	bronchial
12	chr3:118912800-118914400	Flanking Active TSS	A549	lung
13	chr3:118912800-118915000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:118912800-118915000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:118912800-118915200	Enhancers	NH-A	brain
16	chr3:118912800-118915400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:118913000-118913200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:118913000-118913400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:118913000-118913600	Enhancers	HSMM	muscle
20	chr3:118913000-118914200	Enhancers	NHLF	lung
21	chr3:118913000-118914400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:118913000-118915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:118913000-118915200	Enhancers	HMEC	breast
24	chr3:118913000-118915200	Enhancers	NHEK	skin
25	chr3:118913000-118915200	Enhancers	Osteobl	bone

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