Variant report

Variant	rs12106514
Chromosome Location	chr22:31145528-31145529
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10427627	1.00[AFR][1000 genomes]
rs10427877	1.00[AFR][1000 genomes]
rs12165718	0.89[AFR][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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv2763260	chr22:31141521-31185000	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
2	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:31134600-31148800	Weak transcription	NHDF-Ad	bronchial
5	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:31136200-31148800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr22:31137600-31147200	Weak transcription	Aorta	Aorta
8	chr22:31137600-31147600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:31137600-31153000	Weak transcription	Gastric	stomach
10	chr22:31137800-31148800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:31137800-31149000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:31139200-31149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:31139200-31149400	Weak transcription	Brain Anterior Caudate	brain
14	chr22:31139400-31150200	Weak transcription	Brain Substantia Nigra	brain
15	chr22:31139600-31148000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:31139600-31160000	Weak transcription	Brain Germinal Matrix	brain
17	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
18	chr22:31140400-31149000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:31140600-31146000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:31143800-31145800	Weak transcription	K562	blood
21	chr22:31145000-31146200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:31145200-31149200	Weak transcription	Brain Angular Gyrus	brain

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