Variant report

Variant	rs1445950
Chromosome Location	chr5:58489218-58489219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10472096	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472097	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021384	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6882204	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9292196	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58449800-58489400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58474800-58491000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:58479800-58489800	Weak transcription	Gastric	stomach
5	chr5:58484400-58489400	Weak transcription	HSMMtube	muscle
6	chr5:58484400-58489800	Active TSS	Right Ventricle	heart
7	chr5:58484600-58495600	Weak transcription	Fetal Kidney	kidney
8	chr5:58484800-58489400	Weak transcription	NH-A	brain
9	chr5:58484800-58489800	Weak transcription	Fetal Heart	heart
10	chr5:58484800-58491000	Weak transcription	Fetal Stomach	stomach
11	chr5:58484800-58501200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:58485000-58489800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:58485000-58491200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:58485000-58491800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:58485000-58492600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:58485000-58499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:58485000-58505200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:58485400-58489400	Weak transcription	Osteobl	bone
20	chr5:58485600-58491000	Weak transcription	Aorta	Aorta
21	chr5:58485600-58500400	Weak transcription	Psoas Muscle	Psoas
22	chr5:58485600-58501600	Weak transcription	HUVEC	blood vessel
23	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
24	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:58485800-58489600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:58485800-58489600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:58486000-58489400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:58486000-58489400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:58486000-58489400	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:58486000-58489600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:58486000-58494200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:58486000-58508600	Weak transcription	Fetal Intestine Large	intestine
33	chr5:58486600-58489800	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:58486600-58492000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:58486800-58492200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:58488200-58489800	Active TSS	Left Ventricle	heart
37	chr5:58488800-58490000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr5:58489000-58489400	Genic enhancers	A549	lung
39	chr5:58489200-58490400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:58489200-58490400	Enhancers	HSMM	muscle
41	chr5:58489200-58490600	Enhancers	Hela-S3	cervix
42	chr5:58489200-58490800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:58489200-58490800	Enhancers	NHEK	skin
44	chr5:58489200-58491000	Enhancers	HMEC	breast
45	chr5:58489200-58492200	Enhancers	Placenta Amnion	Placenta Amnion

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