Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119593060..119595658-chr12:119595744..119597599,2	K562	blood:

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11064718	1.00[AFR][1000 genomes]
rs12228855	1.00[AFR][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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119589800-119598200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:119592000-119597000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:119592800-119603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:119593000-119597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:119593200-119597400	Enhancers	HSMMtube	muscle
6	chr12:119594400-119598600	Enhancers	Psoas Muscle	Psoas
7	chr12:119594600-119597000	Enhancers	Fetal Brain Male	brain
8	chr12:119594600-119598000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr12:119595200-119602800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:119595600-119597800	Weak transcription	Lung	lung
11	chr12:119595600-119609000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:119595800-119599400	Weak transcription	Brain Angular Gyrus	brain
13	chr12:119595800-119601000	Weak transcription	Brain Germinal Matrix	brain
14	chr12:119596000-119597600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr12:119596000-119598000	Enhancers	Fetal Muscle Trunk	muscle
16	chr12:119596200-119599600	Enhancers	Fetal Muscle Leg	muscle
17	chr12:119596400-119597000	Weak transcription	Aorta	Aorta
18	chr12:119596400-119597000	Weak transcription	Fetal Brain Female	brain
19	chr12:119596600-119597000	Enhancers	Right Ventricle	heart
20	chr12:119596600-119598200	Weak transcription	Right Atrium	heart
21	chr12:119596600-119598400	Enhancers	Left Ventricle	heart

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