Variant report

Variant	rs7612846
Chromosome Location	chr3:118915168-118915169
allele	C/G
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: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11707683	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs12630690	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12632242	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12637159	0.95[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13077850	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13078534	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13098335	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1584398	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2594728	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2594729	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34549395	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35625431	0.94[EUR][1000 genomes]
rs3806695	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs3806697	0.84[CEU][hapmap];0.89[JPT][hapmap]
rs41271389	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4234657	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs4314161	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs4422293	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs4422294	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4528932	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs4547690	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs4591498	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4603947	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs55651430	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6438504	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs6438508	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs67180858	0.89[EUR][1000 genomes]
rs67395904	0.80[EUR][1000 genomes]
rs6778091	0.94[EUR][1000 genomes]
rs7610070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7612800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622158	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	chr3:118901000-118924200	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	chr3:118912800-118915200	Enhancers	NH-A	brain
8	chr3:118912800-118915400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:118913000-118915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:118913000-118915200	Enhancers	HMEC	breast
11	chr3:118913000-118915200	Enhancers	NHEK	skin
12	chr3:118913000-118915200	Enhancers	Osteobl	bone
13	chr3:118913200-118915200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:118913400-118915200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:118913400-118915800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:118913600-118915200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:118913800-118922600	Weak transcription	Primary T cells from cord blood	blood
18	chr3:118914000-118918400	Weak transcription	Fetal Heart	heart
19	chr3:118914200-118915200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:118914200-118923800	Weak transcription	Stomach Mucosa	stomach
21	chr3:118914400-118915400	Enhancers	A549	lung
22	chr3:118914800-118915200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:118915000-118922400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:118915000-118924000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:118915000-118925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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