Variant report

Variant	rs12160625
Chromosome Location	chr22:31136280-31136281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12158477	0.90[AFR][1000 genomes]
rs5997750	0.90[AFR][1000 genomes]
rs5997751	0.89[AFR][1000 genomes]
rs5997753	0.82[AFR][1000 genomes]
rs5997754	0.97[AFR][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	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31114000-31140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
3	chr22:31117000-31140200	Weak transcription	Pancreas	Pancrea
4	chr22:31118400-31138600	Weak transcription	Fetal Brain Female	brain
5	chr22:31123000-31137200	Weak transcription	Gastric	stomach
6	chr22:31128200-31139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr22:31129000-31136800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:31129000-31137200	Weak transcription	Brain Substantia Nigra	brain
9	chr22:31129000-31144800	Weak transcription	Brain Angular Gyrus	brain
10	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:31129200-31138800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr22:31129400-31137400	Weak transcription	Brain Anterior Caudate	brain
14	chr22:31129800-31137000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:31131600-31137200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:31134000-31141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr22:31134200-31136400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr22:31134600-31148800	Weak transcription	NHDF-Ad	bronchial
19	chr22:31135000-31138600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:31135800-31136400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:31136000-31136400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr22:31136000-31136400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:31136000-31136600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr22:31136000-31136800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:31136000-31136800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr22:31136000-31137200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr22:31136000-31138800	Enhancers	GM12878-XiMat	blood
28	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:31136200-31136400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:31136200-31136600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:31136200-31137000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:31136200-31137000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr22:31136200-31137400	Enhancers	K562	blood
34	chr22:31136200-31148800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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