Variant report

Variant	rs2194195
Chromosome Location	chr5:57482925-57482926
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57480309..57485854-chr5:57746705..57749645,6	MCF-7	breast:
2	chr5:57476926..57490322-chr5:57753628..57758155,26	MCF-7	breast:
3	chr5:57376378..57378966-chr5:57481902..57484243,2	MCF-7	breast:
4	chr5:57477268..57479454-chr5:57480690..57483855,3	MCF-7	breast:
5	chr5:57477916..57481431-chr5:57481890..57485680,5	MCF-7	breast:
6	chr5:57481839..57487904-chr5:57753425..57757545,13	MCF-7	breast:
7	chr5:57482131..57485678-chr5:57554046..57557182,5	MCF-7	breast:
8	chr5:57156959..57158801-chr5:57482652..57484519,2	MCF-7	breast:
9	chr5:57482679..57484288-chr5:57751026..57752676,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1035475	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472035	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10472036	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168414	0.87[ASN][1000 genomes]
rs13187650	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473200	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549243	1.00[ASN][1000 genomes]
rs1862539	1.00[ASN][1000 genomes]
rs1981838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981839	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081087	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2216678	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216679	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216683	1.00[ASN][1000 genomes]
rs2216685	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409013	0.81[EUR][1000 genomes]
rs2860439	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910569	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910571	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910573	0.90[ASN][1000 genomes]
rs2910577	0.80[EUR][1000 genomes]
rs2910593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910611	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910612	0.94[ASN][1000 genomes]
rs2961999	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2962021	1.00[ASN][1000 genomes]
rs2962024	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2964184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964200	0.80[EUR][1000 genomes]
rs34969852	0.87[ASN][1000 genomes]
rs988697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989579	0.87[ASN][1000 genomes]

No data

Chromatin state (count:35 , 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	chr5:57478600-57483800	Enhancers	NHEK	skin
6	chr5:57478800-57483000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:57478800-57484200	Weak transcription	Left Ventricle	heart
8	chr5:57478800-57484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:57479000-57483600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:57479000-57484000	Weak transcription	Fetal Kidney	kidney
11	chr5:57479200-57483600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:57479400-57485200	Weak transcription	Aorta	Aorta
13	chr5:57479600-57483800	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:57480000-57483400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:57480000-57483600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:57480000-57483800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:57480000-57486000	Enhancers	Osteobl	bone
18	chr5:57481400-57483400	Weak transcription	HUVEC	blood vessel
19	chr5:57481400-57483600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:57481600-57483000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:57481600-57483600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:57481800-57483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:57481800-57483600	Weak transcription	NHLF	lung
24	chr5:57482000-57483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:57482000-57483400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:57482000-57483400	Weak transcription	NH-A	brain
27	chr5:57482000-57483600	Weak transcription	NHDF-Ad	bronchial
28	chr5:57482000-57483800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:57482600-57486000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:57482600-57486000	Enhancers	HMEC	breast
31	chr5:57482800-57484200	Flanking Active TSS	A549	lung
32	chr5:57482800-57485000	Enhancers	Liver	Liver
33	chr5:57482800-57485800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:57482800-57486200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:57482800-57486200	Enhancers	HSMMtube	muscle

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