Variant report

Variant	rs6571530
Chromosome Location	chr14:32964338-32964339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17412060	1.00[CHB][hapmap]
rs17412116	1.00[CHB][hapmap]
rs2145585	0.97[EUR][1000 genomes]
rs2145586	0.96[EUR][1000 genomes]
rs2180868	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2224429	0.85[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4246973	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32960600-32965000	Enhancers	Brain Angular Gyrus	brain
2	chr14:32961400-32966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:32962000-32966200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:32963200-32964400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:32963400-32964400	Enhancers	Fetal Lung	lung
6	chr14:32963400-32964800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr14:32963400-32964800	Enhancers	Fetal Stomach	stomach
8	chr14:32963400-32964800	Active TSS	Stomach Smooth Muscle	stomach
9	chr14:32963400-32964800	Enhancers	NHLF	lung
10	chr14:32963400-32965200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:32963400-32968800	Active TSS	Right Ventricle	heart
12	chr14:32963600-32965200	Active TSS	Colon Smooth Muscle	Colon
13	chr14:32963600-32967200	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr14:32963800-32964400	Active TSS	Aorta	Aorta
15	chr14:32963800-32964400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr14:32963800-32964600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:32963800-32964600	Enhancers	Osteobl	bone
18	chr14:32963800-32965400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr14:32963800-32965600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr14:32963800-32966400	Active TSS	Left Ventricle	heart
21	chr14:32963800-32966600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:32963800-32966600	Active TSS	Right Atrium	heart
23	chr14:32963800-32967000	Active TSS	Psoas Muscle	Psoas
24	chr14:32963800-32967600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:32964000-32964400	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:32964000-32964600	Enhancers	Hela-S3	cervix
27	chr14:32964000-32964800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:32964000-32964800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:32964000-32964800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:32964000-32964800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr14:32964000-32964800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:32964000-32964800	Flanking Active TSS	NHDF-Ad	bronchial
33	chr14:32964000-32965000	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr14:32964000-32966400	Active TSS	Fetal Muscle Trunk	muscle
35	chr14:32964000-32966600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr14:32964000-32967200	Active TSS	Fetal Heart	heart
37	chr14:32964000-32967600	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr14:32964000-32967800	Active TSS	HSMMtube	muscle
39	chr14:32964200-32964400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr14:32964200-32964400	Active TSS	HSMM	muscle
41	chr14:32964200-32964600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:32964200-32964800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:32964200-32964800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:32964200-32964800	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr14:32964200-32964800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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