Variant report

Variant	rs8020093
Chromosome Location	chr14:31754173-31754174
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10139078	1.00[EUR][1000 genomes]
rs10143393	1.00[EUR][1000 genomes]
rs17097907	1.00[EUR][1000 genomes]
rs34292318	1.00[EUR][1000 genomes]
rs73253154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73257353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73257374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259319	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259359	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8005726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8013552	1.00[EUR][1000 genomes]
rs8021557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31746600-31755400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
3	chr14:31752400-31754200	Enhancers	HUVEC	blood vessel
4	chr14:31753200-31756000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:31753200-31760400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:31753200-31762400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:31753200-31764200	Weak transcription	NHLF	lung
8	chr14:31753200-31766400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:31753200-31768000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:31753200-31769400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:31753200-31776600	Weak transcription	Aorta	Aorta
12	chr14:31753400-31754200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr14:31753400-31762000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:31753400-31762200	Weak transcription	Fetal Lung	lung
15	chr14:31753400-31767800	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:31753400-31769400	Weak transcription	Brain Anterior Caudate	brain
17	chr14:31753400-31769400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:31753400-31774000	Weak transcription	NHDF-Ad	bronchial
19	chr14:31753600-31754200	Enhancers	GM12878-XiMat	blood
20	chr14:31753600-31759800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:31753600-31760000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:31753600-31762200	Weak transcription	Osteobl	bone
23	chr14:31753600-31764000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:31753600-31772600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:31753800-31755400	Weak transcription	HepG2	liver
26	chr14:31753800-31761400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:31754000-31759600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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