Variant report

Variant	rs12369969
Chromosome Location	chr12:106443251-106443252
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	chr12:106441955..106444641-chr12:106446481..106448268,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1427793	0.81[ASN][1000 genomes]
rs73193824	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106415800-106456400	Weak transcription	Aorta	Aorta
2	chr12:106433400-106444400	Weak transcription	Right Ventricle	heart
3	chr12:106433800-106443400	Weak transcription	Gastric	stomach
4	chr12:106434600-106445400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:106439000-106446000	Weak transcription	Fetal Lung	lung
6	chr12:106439200-106445400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:106439600-106445400	Weak transcription	HSMM	muscle
8	chr12:106440600-106444000	Enhancers	Fetal Brain Male	brain
9	chr12:106440600-106445600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:106440600-106446400	Weak transcription	Right Atrium	heart
11	chr12:106441000-106444400	Weak transcription	Lung	lung
12	chr12:106441200-106444400	Enhancers	Fetal Brain Female	brain
13	chr12:106441400-106443800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:106442000-106443600	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:106442000-106444000	Enhancers	Brain Angular Gyrus	brain
16	chr12:106442400-106443600	Enhancers	Brain Anterior Caudate	brain
17	chr12:106442400-106443600	Enhancers	Brain Substantia Nigra	brain
18	chr12:106442400-106443600	Enhancers	Fetal Heart	heart
19	chr12:106442400-106443800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:106442400-106444000	Enhancers	Brain Hippocampus Middle	brain
21	chr12:106442600-106443600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:106442600-106443600	Enhancers	Placenta	Placenta
23	chr12:106443200-106443600	Genic enhancers	HSMMtube	muscle

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