Variant report

Variant	rs12888621
Chromosome Location	chr14:33090982-33090983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10139885	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11626506	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11627076	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11627566	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12147120	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12586675	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12586676	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1956201	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1956220	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2180449	0.82[AMR][1000 genomes]
rs7152377	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7153041	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154943	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7159519	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8016257	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8021432	0.86[EUR][1000 genomes]
rs983766	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:33072400-33091800	Weak transcription	Left Ventricle	heart
3	chr14:33078800-33097000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:33078800-33098200	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:33078800-33102600	Weak transcription	Aorta	Aorta
6	chr14:33080000-33104200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:33081400-33092800	Weak transcription	Brain Substantia Nigra	brain
8	chr14:33081600-33091800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:33081600-33091800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:33089200-33091000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:33089400-33091000	Enhancers	Osteobl	bone
12	chr14:33089600-33093000	Enhancers	Fetal Heart	heart
13	chr14:33089600-33102600	Weak transcription	Psoas Muscle	Psoas
14	chr14:33089800-33092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:33090000-33092800	Weak transcription	HSMM	muscle
16	chr14:33090200-33092200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:33090200-33092200	Weak transcription	NHEK	skin
18	chr14:33090400-33091000	Enhancers	NHLF	lung
19	chr14:33090400-33091400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:33090400-33091800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:33090400-33092400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:33090600-33091800	Enhancers	NHDF-Ad	bronchial
23	chr14:33090600-33092600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:33090800-33091000	Enhancers	HSMMtube	muscle

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