Variant report

Variant	rs394717
Chromosome Location	chr5:145212657-145212658
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145203763..145206199-chr5:145209923..145212863,2	K562	blood:
2	chr5:145204699..145206468-chr5:145210985..145212863,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs104186	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1654166	0.88[AFR][1000 genomes]
rs1984956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985684	0.88[AFR][1000 genomes]
rs2009683	0.85[AFR][1000 genomes]
rs371991	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs385175	0.84[AFR][1000 genomes]
rs387269	0.88[AFR][1000 genomes]
rs417215	0.85[AFR][1000 genomes]
rs420915	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs421582	0.85[AFR][1000 genomes]
rs441076	0.88[AFR][1000 genomes]
rs442708	0.85[AFR][1000 genomes]
rs443033	0.85[AFR][1000 genomes]
rs4516907	0.85[AFR][1000 genomes]
rs4518453	0.88[AFR][1000 genomes]
rs453811	0.85[AFR][1000 genomes]
rs620323	0.91[AFR][1000 genomes]
rs681591	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9716435	0.88[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145162800-145212800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:145170600-145213400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:145172800-145214200	Weak transcription	Right Ventricle	heart
4	chr5:145183600-145214000	Weak transcription	Fetal Kidney	kidney
5	chr5:145195200-145212800	Weak transcription	Colonic Mucosa	Colon
6	chr5:145196800-145214000	Weak transcription	Fetal Stomach	stomach
7	chr5:145198000-145213600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:145201400-145214200	Weak transcription	Lung	lung
9	chr5:145207200-145214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:145207400-145212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:145207400-145213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:145207400-145214000	Weak transcription	NHEK	skin
13	chr5:145208400-145213600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:145208800-145213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:145209000-145213400	Enhancers	HepG2	liver
16	chr5:145209400-145212800	Weak transcription	Ovary	ovary
17	chr5:145209400-145212800	Weak transcription	Pancreas	Pancrea
18	chr5:145209600-145213200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:145209800-145214000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:145209800-145214200	Weak transcription	Small Intestine	intestine
21	chr5:145209800-145214200	Weak transcription	Hela-S3	cervix
22	chr5:145210400-145212800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr5:145210400-145213400	Weak transcription	Fetal Heart	heart
24	chr5:145210400-145213600	Weak transcription	A549	lung
25	chr5:145210400-145214000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:145210600-145214400	Weak transcription	Primary T cells from cord blood	blood
27	chr5:145210800-145213000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:145210800-145213600	Weak transcription	NHDF-Ad	bronchial
29	chr5:145210800-145214200	Weak transcription	Liver	Liver
30	chr5:145211000-145213200	Weak transcription	NHLF	lung
31	chr5:145211000-145213400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:145211000-145213600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:145211000-145213800	Weak transcription	Osteobl	bone
34	chr5:145211000-145214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:145211000-145214200	Weak transcription	Left Ventricle	heart
36	chr5:145211000-145214200	Weak transcription	Right Atrium	heart
37	chr5:145211000-145214400	Weak transcription	HSMMtube	muscle
38	chr5:145211200-145213000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:145211200-145213400	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:145211200-145213400	Weak transcription	HUVEC	blood vessel
41	chr5:145211200-145213800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:145211200-145213800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:145211200-145214000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:145211200-145214000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:145211200-145214000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:145211200-145214000	Weak transcription	NH-A	brain
47	chr5:145211400-145213200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:145211400-145213200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:145211400-145213400	Weak transcription	Fetal Brain Male	brain
50	chr5:145211400-145213600	Enhancers	Stomach Mucosa	stomach

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