Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26340413..26342311-chr12:26359943..26362244,2	K562	blood:

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

rs_ID	r²[population]
rs11048432	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12313670	0.86[EUR][1000 genomes]
rs12313736	0.86[EUR][1000 genomes]
rs12314202	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12318480	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1351334	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16930324	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17381729	0.81[EUR][1000 genomes]
rs58395664	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60530440	0.86[EUR][1000 genomes]
rs60666103	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73292992	0.86[EUR][1000 genomes]
rs73292995	0.82[EUR][1000 genomes]
rs73295005	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73295081	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73295090	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73295095	0.86[EUR][1000 genomes]
rs7955562	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7955569	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7971293	0.94[AMR][1000 genomes];0.86[EUR][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26352200-26365200	Weak transcription	HSMMtube	muscle
2	chr12:26357800-26365600	Weak transcription	Ovary	ovary
3	chr12:26358200-26365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:26358400-26363600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:26358600-26368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:26358800-26362600	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:26358800-26367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:26359000-26362400	Weak transcription	Fetal Heart	heart
10	chr12:26359200-26364000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:26359200-26367000	Weak transcription	Psoas Muscle	Psoas
12	chr12:26359200-26379600	Weak transcription	Aorta	Aorta
13	chr12:26359600-26379000	Weak transcription	Brain Angular Gyrus	brain
14	chr12:26359800-26366800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:26360000-26364000	Weak transcription	Brain Anterior Caudate	brain
16	chr12:26360000-26364400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:26360000-26368000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:26360000-26372800	Weak transcription	Brain Hippocampus Middle	brain

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