Variant report

Variant	rs12513375
Chromosome Location	chr4:148024930-148024931
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11722430	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11735165	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736076	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1507492	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4309820	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4543091	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839893	0.91[ASN][1000 genomes]
rs6844319	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[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	nsv880240	chr4:147905897-148032003	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148022800-148026400	Enhancers	NHLF	lung
2	chr4:148023800-148027600	Enhancers	Adipose Nuclei	Adipose
3	chr4:148024200-148025200	Enhancers	Fetal Lung	lung
4	chr4:148024400-148025000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:148024400-148025000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:148024400-148025000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:148024400-148025000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:148024400-148025000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:148024400-148025000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:148024400-148025000	Enhancers	Fetal Stomach	stomach
11	chr4:148024400-148025000	Enhancers	Left Ventricle	heart
12	chr4:148024400-148025000	Enhancers	Psoas Muscle	Psoas
13	chr4:148024400-148025200	Enhancers	Fetal Muscle Leg	muscle
14	chr4:148024400-148025200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr4:148024400-148025400	Enhancers	Hela-S3	cervix
16	chr4:148024400-148025600	Enhancers	Fetal Heart	heart
17	chr4:148024400-148026200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:148024400-148026400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:148024400-148026400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr4:148024600-148025000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:148024600-148025000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:148024600-148025000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:148024600-148025000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:148024600-148025000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:148024600-148025000	Enhancers	Placenta	Placenta
26	chr4:148024600-148025000	Enhancers	Ovary	ovary
27	chr4:148024600-148025200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:148024600-148025400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:148024600-148025400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:148024800-148025000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr4:148024800-148025000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:148024800-148025000	Enhancers	Fetal Muscle Trunk	muscle
33	chr4:148024800-148025200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:148024800-148026000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:148024800-148026000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:148024800-148026000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:148024800-148026000	Enhancers	Osteobl	bone
38	chr4:148024800-148026200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:148024800-148026200	Enhancers	HSMM	muscle
40	chr4:148024800-148026400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:148024800-148026400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:148024800-148026400	Enhancers	HSMMtube	muscle
43	chr4:148024800-148026600	Enhancers	NH-A	brain
44	chr4:148024800-148026800	Enhancers	NHDF-Ad	bronchial

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