Variant report

Variant	rs13145672
Chromosome Location	chr4:57917126-57917127
allele	C/G
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:9)

rs_ID	r²[population]
rs12642511	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12642538	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12642622	0.86[JPT][hapmap]
rs12648928	0.86[JPT][hapmap]
rs1277313	0.81[JPT][hapmap]
rs17087401	0.86[JPT][hapmap]
rs1718824	0.81[JPT][hapmap]
rs34077973	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6839014	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57898800-57917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:57904800-57922200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:57910400-57917200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:57910400-57921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:57911600-57917200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:57911600-57917400	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:57911800-57919600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:57912000-57920200	Weak transcription	Aorta	Aorta
11	chr4:57913000-57921200	Weak transcription	Fetal Stomach	stomach
12	chr4:57913000-57922000	Weak transcription	NHLF	lung
13	chr4:57913000-57922600	Weak transcription	Ovary	ovary
14	chr4:57914000-57919600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:57914200-57918000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:57914600-57918000	Enhancers	HUVEC	blood vessel
17	chr4:57915000-57918400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr4:57915000-57921200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:57915200-57922400	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:57915400-57917400	Weak transcription	NHDF-Ad	bronchial
21	chr4:57915400-57923600	Weak transcription	HSMM	muscle
22	chr4:57915600-57922600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:57915600-57923000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:57915600-57924200	Enhancers	Left Ventricle	heart
25	chr4:57915800-57917200	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:57915800-57917200	Weak transcription	Fetal Heart	heart
27	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:57916000-57917400	Weak transcription	Psoas Muscle	Psoas
29	chr4:57916000-57917400	Weak transcription	Spleen	Spleen
30	chr4:57916000-57918000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:57916000-57918400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:57916000-57919400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:57916000-57919400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:57916000-57919400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:57916000-57919400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:57916000-57919400	Weak transcription	HMEC	breast
37	chr4:57916000-57919600	Weak transcription	A549	lung
38	chr4:57916000-57922000	Weak transcription	Brain Anterior Caudate	brain
39	chr4:57916200-57917200	Weak transcription	Adipose Nuclei	Adipose
40	chr4:57916200-57917200	Weak transcription	Fetal Kidney	kidney
41	chr4:57916200-57917400	Weak transcription	Right Ventricle	heart
42	chr4:57916200-57918000	Weak transcription	NHEK	skin
43	chr4:57916400-57917200	Weak transcription	NH-A	brain
44	chr4:57916400-57918600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr4:57916600-57917400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr4:57916600-57918000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:57916600-57919000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr4:57916600-57919400	Strong transcription	Osteobl	bone
49	chr4:57916800-57918200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:57916800-57919000	Enhancers	Right Atrium	heart

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