Variant report

Variant	rs421582
Chromosome Location	chr5:145213335-145213336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145213194..145215106-chr5:145826697..145828661,2	K562	blood:
2	chr5:145213219..145215164-chr5:145314647..145317040,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113649	Chromatin interaction
ENSG00000156463	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs104186	0.81[AFR][1000 genomes]
rs1654166	0.85[AFR][1000 genomes]
rs1985684	0.85[AFR][1000 genomes]
rs2009683	0.83[AFR][1000 genomes]
rs385175	0.82[AFR][1000 genomes]
rs387269	0.85[AFR][1000 genomes]
rs394717	0.85[AFR][1000 genomes]
rs417215	0.83[AFR][1000 genomes]
rs420915	0.86[AFR][1000 genomes]
rs441076	0.85[AFR][1000 genomes]
rs442708	0.83[AFR][1000 genomes]
rs443033	0.83[AFR][1000 genomes]
rs4516907	0.83[AFR][1000 genomes]
rs4518453	0.85[AFR][1000 genomes]
rs453811	0.83[AFR][1000 genomes]
rs620323	0.85[AFR][1000 genomes]
rs9716435	0.85[AFR][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	esv19333	chr5:145209035-145213523	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145170600-145213400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:145172800-145214200	Weak transcription	Right Ventricle	heart
3	chr5:145183600-145214000	Weak transcription	Fetal Kidney	kidney
4	chr5:145196800-145214000	Weak transcription	Fetal Stomach	stomach
5	chr5:145198000-145213600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:145201400-145214200	Weak transcription	Lung	lung
7	chr5:145207200-145214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:145207400-145213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:145207400-145214000	Weak transcription	NHEK	skin
10	chr5:145208400-145213600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:145208800-145213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:145209000-145213400	Enhancers	HepG2	liver
13	chr5:145209800-145214000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:145209800-145214200	Weak transcription	Small Intestine	intestine
15	chr5:145209800-145214200	Weak transcription	Hela-S3	cervix
16	chr5:145210400-145213400	Weak transcription	Fetal Heart	heart
17	chr5:145210400-145213600	Weak transcription	A549	lung
18	chr5:145210400-145214000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:145210600-145214400	Weak transcription	Primary T cells from cord blood	blood
20	chr5:145210800-145213600	Weak transcription	NHDF-Ad	bronchial
21	chr5:145210800-145214200	Weak transcription	Liver	Liver
22	chr5:145211000-145213400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:145211000-145213600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:145211000-145213800	Weak transcription	Osteobl	bone
25	chr5:145211000-145214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:145211000-145214200	Weak transcription	Left Ventricle	heart
27	chr5:145211000-145214200	Weak transcription	Right Atrium	heart
28	chr5:145211000-145214400	Weak transcription	HSMMtube	muscle
29	chr5:145211200-145213400	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:145211200-145213400	Weak transcription	HUVEC	blood vessel
31	chr5:145211200-145213800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:145211200-145213800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:145211200-145214000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:145211200-145214000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:145211200-145214000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:145211200-145214000	Weak transcription	NH-A	brain
37	chr5:145211400-145213400	Weak transcription	Fetal Brain Male	brain
38	chr5:145211400-145213600	Enhancers	Stomach Mucosa	stomach
39	chr5:145211400-145214000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:145212000-145214000	Enhancers	Fetal Lung	lung
41	chr5:145212400-145214200	Weak transcription	Gastric	stomach
42	chr5:145212600-145214000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr5:145212600-145214000	Flanking Active TSS	K562	blood
44	chr5:145212800-145213400	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr5:145212800-145213400	Enhancers	Ovary	ovary
46	chr5:145212800-145213400	Enhancers	Pancreas	Pancrea
47	chr5:145212800-145213600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr5:145212800-145213800	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr5:145212800-145214000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:145212800-145214000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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