Variant report

Variant	rs73295005
Chromosome Location	chr12:26358702-26358703
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	chr12:26357801..26359384-chr12:26374632..26376428,2	K562	blood:
2	chr12:26351932..26353436-chr12:26357817..26360004,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11048432	0.81[AMR][1000 genomes]
rs12314202	0.81[AMR][1000 genomes]
rs12318384	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1351334	0.81[AMR][1000 genomes]
rs1531649	0.84[AFR][1000 genomes]
rs16930324	0.95[EUR][1000 genomes]
rs56871073	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs58395664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60530440	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60666103	0.93[AMR][1000 genomes]
rs73292992	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73292995	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73295081	0.81[AMR][1000 genomes]
rs73295090	0.93[AMR][1000 genomes]
rs7955562	0.81[AMR][1000 genomes]
rs7955569	0.81[AMR][1000 genomes]
rs7971293	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26352200-26365200	Weak transcription	HSMMtube	muscle
2	chr12:26355400-26359200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:26356800-26359000	Enhancers	Fetal Heart	heart
4	chr12:26357000-26359200	Enhancers	Psoas Muscle	Psoas
5	chr12:26357200-26358800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:26357200-26359000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:26357400-26359200	Enhancers	Left Ventricle	heart
8	chr12:26357400-26360200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:26357600-26358800	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr12:26357600-26359600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:26357600-26359800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:26357800-26359400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:26357800-26365600	Weak transcription	Ovary	ovary
14	chr12:26358000-26358800	Enhancers	Brain Germinal Matrix	brain
15	chr12:26358000-26358800	Enhancers	Colon Smooth Muscle	Colon
16	chr12:26358000-26359000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:26358200-26359200	Enhancers	Aorta	Aorta
18	chr12:26358200-26359600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:26358200-26365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:26358400-26359200	Enhancers	Right Ventricle	heart
21	chr12:26358400-26363600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:26358600-26358800	Active TSS	Brain Anterior Caudate	brain
23	chr12:26358600-26358800	Enhancers	Brain Substantia Nigra	brain
24	chr12:26358600-26359000	Enhancers	Brain Angular Gyrus	brain
25	chr12:26358600-26359800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:26358600-26359800	Enhancers	Brain Cingulate Gyrus	brain
27	chr12:26358600-26360000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr12:26358600-26368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle

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