Variant report

Variant	rs62442575
Chromosome Location	chr7:38669649-38669650
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10223974	0.89[EUR][1000 genomes]
rs62442571	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62442574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62442576	0.80[AFR][1000 genomes]
rs62442577	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38667800-38669800	Enhancers	Fetal Brain Male	brain
2	chr7:38668000-38670000	Enhancers	NHDF-Ad	bronchial
3	chr7:38668000-38671400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:38668200-38669800	Enhancers	NH-A	brain
5	chr7:38668400-38669800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:38668400-38671400	Active TSS	Brain Angular Gyrus	brain
7	chr7:38668400-38671600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr7:38668800-38669800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:38668800-38669800	Enhancers	Fetal Stomach	stomach
10	chr7:38669000-38670200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:38669200-38670000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr7:38669200-38670000	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr7:38669200-38670200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:38669200-38670200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:38669400-38669800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
16	chr7:38669400-38669800	Enhancers	Fetal Heart	heart
17	chr7:38669400-38669800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr7:38669400-38670000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:38669400-38670000	Active TSS	Fetal Kidney	kidney
20	chr7:38669400-38670200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:38669400-38670200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr7:38669400-38670400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:38669600-38669800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:38669600-38669800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:38669600-38669800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:38669600-38669800	Enhancers	Brain Substantia Nigra	brain
27	chr7:38669600-38669800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr7:38669600-38669800	Bivalent Enhancer	HUVEC	blood vessel
29	chr7:38669600-38670000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr7:38669600-38670200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
31	chr7:38669600-38670200	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr7:38669600-38670200	Flanking Active TSS	Fetal Brain Female	brain
33	chr7:38669600-38670200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr7:38669600-38670400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr7:38669600-38670400	Weak transcription	Gastric	stomach
36	chr7:38669600-38671000	Active TSS	Colon Smooth Muscle	Colon
37	chr7:38669600-38671200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:38669600-38671200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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