Variant report

Variant	rs12644747
Chromosome Location	chr4:57913112-57913113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11573106	1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17087289	1.00[CEU][hapmap];0.89[MEX][hapmap]
rs59562605	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	chr4:57899200-57914600	Weak transcription	Brain Substantia Nigra	brain
3	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:57904800-57922200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:57907000-57914800	Weak transcription	Fetal Heart	heart
7	chr4:57907200-57913400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:57907400-57916600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr4:57908000-57914200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:57909600-57913600	Enhancers	HSMMtube	muscle
11	chr4:57910400-57913400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:57910400-57914800	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:57910400-57915000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:57910400-57915000	Weak transcription	Spleen	Spleen
15	chr4:57910400-57917200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:57910400-57921200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:57910600-57914800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:57911400-57915200	Weak transcription	Brain Anterior Caudate	brain
19	chr4:57911600-57914600	Weak transcription	HUVEC	blood vessel
20	chr4:57911600-57917200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:57911600-57917400	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:57911800-57914600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:57911800-57914600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:57911800-57914800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:57911800-57914800	Weak transcription	Adipose Nuclei	Adipose
26	chr4:57911800-57914800	Weak transcription	NHEK	skin
27	chr4:57911800-57915000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:57911800-57915200	Weak transcription	A549	lung
29	chr4:57911800-57919600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:57912000-57920200	Weak transcription	Aorta	Aorta
31	chr4:57912200-57913200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:57912400-57913200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:57912400-57913400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:57912400-57913400	Enhancers	Right Ventricle	heart
35	chr4:57912400-57914800	Weak transcription	HSMM	muscle
36	chr4:57912600-57913200	Strong transcription	NH-A	brain
37	chr4:57912600-57914600	Weak transcription	HMEC	breast
38	chr4:57912600-57914800	Weak transcription	NHDF-Ad	bronchial
39	chr4:57912600-57915000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:57912600-57916600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:57912800-57913200	Genic enhancers	Osteobl	bone
42	chr4:57912800-57913600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:57912800-57914000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:57912800-57914400	Enhancers	Right Atrium	heart
45	chr4:57912800-57914600	Enhancers	Left Ventricle	heart
46	chr4:57912800-57915000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:57913000-57913600	Enhancers	Fetal Kidney	kidney
48	chr4:57913000-57914600	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:57913000-57914800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:57913000-57914800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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