Variant report

Variant	rs72642563
Chromosome Location	chr14:33092727-33092728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12050460	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12586862	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1304338	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784204	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784205	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825753	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56219736	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72642562	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642564	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72642565	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:33078800-33097000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:33078800-33098200	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:33078800-33102600	Weak transcription	Aorta	Aorta
5	chr14:33080000-33104200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr14:33081400-33092800	Weak transcription	Brain Substantia Nigra	brain
7	chr14:33089600-33093000	Enhancers	Fetal Heart	heart
8	chr14:33089600-33102600	Weak transcription	Psoas Muscle	Psoas
9	chr14:33089800-33092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:33090000-33092800	Weak transcription	HSMM	muscle
11	chr14:33091000-33092800	Weak transcription	NHLF	lung
12	chr14:33091000-33095000	Weak transcription	HSMMtube	muscle
13	chr14:33091600-33093200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:33091800-33093200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:33091800-33093200	Enhancers	Left Ventricle	heart
16	chr14:33091800-33093400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:33091800-33093600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:33092000-33092800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:33092000-33093400	Enhancers	Osteobl	bone
20	chr14:33092200-33093400	Enhancers	NHEK	skin
21	chr14:33092200-33093600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:33092200-33093600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:33092200-33096600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:33092400-33093200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:33092400-33093200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:33092400-33093600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:33092400-33093800	Flanking Active TSS	NHDF-Ad	bronchial
28	chr14:33092400-33102800	Weak transcription	Right Ventricle	heart
29	chr14:33092600-33093200	Enhancers	HMEC	breast
30	chr14:33092600-33093400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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