Variant report

Variant	rs59140322
Chromosome Location	chr3:118914832-118914833
allele	lengthTooLong
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118914548..118916696-chr3:118929232..118931834,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10511384	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12690556	0.81[ASN][1000 genomes]
rs12695382	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12695383	0.87[ASN][1000 genomes]
rs13070981	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13091429	0.87[ASN][1000 genomes]
rs13094747	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13098659	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2001286	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28668839	0.83[ASN][1000 genomes]
rs28885082	0.81[ASN][1000 genomes]
rs35816234	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3752376	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3752377	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796358	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57446248	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59448071	0.87[ASN][1000 genomes]
rs71325367	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7650288	0.88[ASN][1000 genomes]
rs9289125	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9812715	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9818595	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9824387	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9832248	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9834466	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9835060	0.89[EUR][1000 genomes]
rs9836230	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9837110	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9844382	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9849672	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9850349	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9857127	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9858124	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9862321	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9867379	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9869645	0.81[ASN][1000 genomes]
rs9874573	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9879593	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9881379	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9881947	0.92[EUR][1000 genomes];0.89[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	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
6	esv990401	chr3:118914819-118914866	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118901000-118924200	Weak transcription	Pancreas	Pancrea
2	chr3:118903400-118924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:118904600-118936400	Weak transcription	Gastric	stomach
4	chr3:118908400-118928200	Weak transcription	Fetal Stomach	stomach
5	chr3:118911800-118932600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:118912600-118915200	Enhancers	NHDF-Ad	bronchial
7	chr3:118912800-118915000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:118912800-118915000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:118912800-118915200	Enhancers	NH-A	brain
10	chr3:118912800-118915400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:118913000-118915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:118913000-118915200	Enhancers	HMEC	breast
13	chr3:118913000-118915200	Enhancers	NHEK	skin
14	chr3:118913000-118915200	Enhancers	Osteobl	bone
15	chr3:118913200-118915200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:118913400-118915200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:118913400-118915800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr3:118913600-118915000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:118913600-118915200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:118913800-118922600	Weak transcription	Primary T cells from cord blood	blood
21	chr3:118914000-118918400	Weak transcription	Fetal Heart	heart
22	chr3:118914200-118915200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:118914200-118923800	Weak transcription	Stomach Mucosa	stomach
24	chr3:118914400-118915000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:118914400-118915400	Enhancers	A549	lung
26	chr3:118914800-118915000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:118914800-118915200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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