Variant report

Variant	rs2964186
Chromosome Location	chr5:57480693-57480694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57480309..57485854-chr5:57746705..57749645,6	MCF-7	breast:
2	chr5:57479311..57481090-chr5:57734441..57736091,2	MCF-7	breast:
3	chr5:57476926..57490322-chr5:57753628..57758155,26	MCF-7	breast:
4	chr5:57471289..57472885-chr5:57478169..57480809,2	MCF-7	breast:
5	chr5:57477268..57479454-chr5:57480690..57483855,3	MCF-7	breast:
6	chr5:57476351..57480907-chr5:57753998..57756749,5	MCF-7	breast:
7	chr5:57477916..57481431-chr5:57481890..57485680,5	MCF-7	breast:
8	chr5:56730659..56732507-chr5:57478497..57480743,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11739055	0.91[ASN][1000 genomes]
rs11741711	0.91[ASN][1000 genomes]
rs11742619	0.91[ASN][1000 genomes]
rs2409014	0.91[ASN][1000 genomes]
rs2962010	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2962015	1.00[ASN][1000 genomes]
rs2964182	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964183	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964185	1.00[ASN][1000 genomes]
rs35359164	0.91[ASN][1000 genomes]
rs56160829	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73757719	0.91[ASN][1000 genomes]
rs7713811	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs988696	0.91[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
Ejection fraction in Tripanosoma cruzi seropositivity	24324551	GWAS catalog

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57477200-57486000	Enhancers	HSMM	muscle
2	chr5:57477400-57483600	Enhancers	Hela-S3	cervix
3	chr5:57477600-57483600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:57478000-57483800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:57478200-57480800	Enhancers	A549	lung
6	chr5:57478400-57482000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:57478600-57482200	Enhancers	HMEC	breast
8	chr5:57478600-57482800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:57478600-57482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:57478600-57483800	Enhancers	NHEK	skin
11	chr5:57478800-57481400	Weak transcription	Gastric	stomach
12	chr5:57478800-57482000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:57478800-57483000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:57478800-57484200	Weak transcription	Left Ventricle	heart
15	chr5:57478800-57484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:57479000-57483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:57479000-57484000	Weak transcription	Fetal Kidney	kidney
18	chr5:57479200-57483600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:57479400-57485200	Weak transcription	Aorta	Aorta
20	chr5:57479600-57482200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:57479600-57483800	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:57480000-57482000	Enhancers	NHDF-Ad	bronchial
23	chr5:57480000-57483400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:57480000-57483600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:57480000-57483800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:57480000-57486000	Enhancers	Osteobl	bone
27	chr5:57480400-57480800	Flanking Active TSS	HSMMtube	muscle
28	chr5:57480400-57481600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:57480600-57480800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:57480600-57481400	Enhancers	HUVEC	blood vessel
31	chr5:57480600-57482000	Enhancers	NH-A	brain

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