Variant report

Variant	rs57472589
Chromosome Location	chr5:41744735-41744736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57365158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57886651	1.00[AMR][1000 genomes]
rs60098944	0.89[AFR][1000 genomes]
rs60270388	1.00[AMR][1000 genomes]
rs715469	0.85[AFR][1000 genomes];1.00[AMR][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	esv3404444	chr5:41701527-41744979	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41725600-41747400	Weak transcription	Fetal Kidney	kidney
2	chr5:41727400-41751400	Weak transcription	Fetal Brain Female	brain
3	chr5:41727800-41747200	Weak transcription	NH-A	brain
4	chr5:41727800-41758200	Weak transcription	Esophagus	oesophagus
5	chr5:41728600-41763800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:41729200-41755000	Weak transcription	NHDF-Ad	bronchial
7	chr5:41730200-41764000	Weak transcription	Spleen	Spleen
8	chr5:41730600-41760800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:41731400-41747200	Weak transcription	Fetal Lung	lung
10	chr5:41731400-41800400	Weak transcription	Small Intestine	intestine
11	chr5:41732400-41747200	Weak transcription	HUVEC	blood vessel
12	chr5:41733400-41747400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:41734600-41757800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:41735200-41747400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:41735200-41747800	Weak transcription	Fetal Heart	heart
16	chr5:41735400-41748000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:41735600-41763200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:41735600-41763400	Weak transcription	Fetal Brain Male	brain
19	chr5:41735800-41800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:41736200-41763400	Weak transcription	Psoas Muscle	Psoas
21	chr5:41736800-41763000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:41737000-41754800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:41737200-41747400	Weak transcription	HSMMtube	muscle
24	chr5:41737200-41752200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:41737600-41746400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:41737800-41763400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:41738800-41747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:41738800-41749800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:41738800-41752200	Weak transcription	Brain Anterior Caudate	brain
30	chr5:41738800-41755800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:41738800-41759600	Weak transcription	Ovary	ovary
32	chr5:41738800-41760800	Weak transcription	NHEK	skin
33	chr5:41739200-41763200	Weak transcription	Brain Substantia Nigra	brain
34	chr5:41739400-41746800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:41739400-41746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:41739400-41747400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:41739400-41747400	Weak transcription	Brain Angular Gyrus	brain
38	chr5:41739400-41747400	Weak transcription	Osteobl	bone
39	chr5:41739400-41748000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:41739400-41753400	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:41739400-41754800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:41739400-41759000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:41739400-41770800	Weak transcription	Pancreas	Pancrea
44	chr5:41739400-41788800	Weak transcription	Gastric	stomach
45	chr5:41739400-41790200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:41739400-41799600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:41739600-41746400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:41739600-41746400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:41739600-41746400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:41739600-41746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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