Variant report

Variant	rs5997754
Chromosome Location	chr22:31139587-31139588
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31138448..31141256-chr22:31142885..31145479,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12158477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12160625	0.97[AFR][1000 genomes]
rs5997744	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997745	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997750	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997751	0.86[AFR][1000 genomes]
rs7293181	1.00[EUR][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:43 , 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	chr22:31128200-31139600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:31129000-31144800	Weak transcription	Brain Angular Gyrus	brain
6	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr22:31134000-31141600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:31134600-31148800	Weak transcription	NHDF-Ad	bronchial
10	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:31136200-31148800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr22:31137000-31139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:31137400-31139800	Weak transcription	K562	blood
14	chr22:31137600-31139800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr22:31137600-31147200	Weak transcription	Aorta	Aorta
16	chr22:31137600-31147600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:31137600-31153000	Weak transcription	Gastric	stomach
18	chr22:31137800-31148800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr22:31137800-31149000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:31138400-31140000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr22:31138400-31140400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr22:31138600-31140000	Strong transcription	Fetal Brain Female	brain
23	chr22:31138600-31140200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:31138800-31139600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:31138800-31139600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:31138800-31139600	Strong transcription	Brain Germinal Matrix	brain
27	chr22:31138800-31140400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr22:31138800-31140400	Strong transcription	Brain Cingulate Gyrus	brain
29	chr22:31138800-31140400	Enhancers	HUVEC	blood vessel
30	chr22:31138800-31140600	Enhancers	Primary hematopoietic stem cells	blood
31	chr22:31138800-31140600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:31139000-31139600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr22:31139000-31140400	Enhancers	Lung	lung
34	chr22:31139000-31140600	Enhancers	Spleen	Spleen
35	chr22:31139200-31139800	Enhancers	Primary B cells from peripheral blood	blood
36	chr22:31139200-31140200	Enhancers	Adipose Nuclei	Adipose
37	chr22:31139200-31145000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:31139200-31149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr22:31139200-31149400	Weak transcription	Brain Anterior Caudate	brain
40	chr22:31139400-31139800	Enhancers	GM12878-XiMat	blood
41	chr22:31139400-31140200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr22:31139400-31140200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr22:31139400-31150200	Weak transcription	Brain Substantia Nigra	brain

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