Variant report

Variant	rs2145585
Chromosome Location	chr14:32963787-32963788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10129929	0.86[ASN][1000 genomes]
rs10142582	0.86[ASN][1000 genomes]
rs12147424	0.86[ASN][1000 genomes]
rs1956992	0.86[ASN][1000 genomes]
rs2145586	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180868	0.98[EUR][1000 genomes]
rs2224429	0.80[EUR][1000 genomes]
rs4246973	0.95[EUR][1000 genomes]
rs6571530	0.97[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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32960400-32964000	Enhancers	Brain Hippocampus Middle	brain
2	chr14:32960600-32963800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr14:32960600-32964200	Enhancers	Brain Substantia Nigra	brain
4	chr14:32960600-32965000	Enhancers	Brain Angular Gyrus	brain
5	chr14:32961400-32966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:32962000-32966200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:32962200-32963800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:32962200-32964200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:32962600-32964000	Weak transcription	Hela-S3	cervix
10	chr14:32963000-32964000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:32963000-32964000	Flanking Active TSS	Fetal Heart	heart
12	chr14:32963000-32964000	Flanking Active TSS	HSMMtube	muscle
13	chr14:32963200-32963800	Weak transcription	Aorta	Aorta
14	chr14:32963200-32963800	Weak transcription	Psoas Muscle	Psoas
15	chr14:32963200-32964000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:32963200-32964000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:32963200-32964400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:32963400-32963800	Enhancers	Right Atrium	heart
19	chr14:32963400-32963800	Flanking Active TSS	HSMM	muscle
20	chr14:32963400-32964400	Enhancers	Fetal Lung	lung
21	chr14:32963400-32964800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr14:32963400-32964800	Enhancers	Fetal Stomach	stomach
23	chr14:32963400-32964800	Active TSS	Stomach Smooth Muscle	stomach
24	chr14:32963400-32964800	Enhancers	NHLF	lung
25	chr14:32963400-32965200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:32963400-32968800	Active TSS	Right Ventricle	heart
27	chr14:32963600-32963800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr14:32963600-32963800	Active TSS	Fetal Muscle Leg	muscle
29	chr14:32963600-32963800	Weak transcription	Left Ventricle	heart
30	chr14:32963600-32964000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr14:32963600-32964000	Active TSS	NHDF-Ad	bronchial
32	chr14:32963600-32964200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:32963600-32964200	Active TSS	Rectal Smooth Muscle	rectum
34	chr14:32963600-32965200	Active TSS	Colon Smooth Muscle	Colon
35	chr14:32963600-32967200	Active TSS	Skeletal Muscle Female	skeletal muscle

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