Variant report

Variant	rs58467547
Chromosome Location	chr22:31144707-31144708
allele	A/C
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:
2	chr22:31031196..31033170-chr22:31143142..31145233,2	K562	blood:

Variant related genes	Relation type
ENSG00000100036	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1040422	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12483846	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12484930	0.98[AMR][1000 genomes]
rs136267	0.82[ASN][1000 genomes]
rs136318	0.83[ASN][1000 genomes]
rs136320	0.81[ASN][1000 genomes]
rs136329	0.83[ASN][1000 genomes]
rs136339	0.82[ASN][1000 genomes]
rs136342	0.81[ASN][1000 genomes]
rs136348	0.94[ASN][1000 genomes]
rs136351	0.80[ASN][1000 genomes]
rs136354	0.80[ASN][1000 genomes]
rs136380	0.83[ASN][1000 genomes]
rs136383	0.85[ASN][1000 genomes]
rs136388	0.80[ASN][1000 genomes]
rs4820897	0.82[AMR][1000 genomes]
rs55765123	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5749156	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5749157	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749161	0.82[ASN][1000 genomes]
rs5753280	0.91[AMR][1000 genomes]
rs5753281	0.92[AMR][1000 genomes]
rs5753285	0.98[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5753287	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753290	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753292	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753294	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753295	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753297	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753298	0.82[AMR][1000 genomes]
rs5997737	0.80[ASN][1000 genomes]
rs61537428	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62235882	0.98[AMR][1000 genomes]
rs62235883	0.82[AMR][1000 genomes]
rs62235892	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8141331	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8184976	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs909705	0.98[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs926340	0.80[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31115600-31149400	Weak transcription	Brain Hippocampus Middle	brain
2	chr22:31129000-31144800	Weak transcription	Brain Angular Gyrus	brain
3	chr22:31129000-31149400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr22:31129000-31149400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:31134600-31148800	Weak transcription	NHDF-Ad	bronchial
6	chr22:31136000-31151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr22:31136200-31148800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr22:31137600-31147200	Weak transcription	Aorta	Aorta
9	chr22:31137600-31147600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:31137600-31153000	Weak transcription	Gastric	stomach
11	chr22:31137800-31148800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:31137800-31149000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:31139200-31145000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:31139200-31149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:31139200-31149400	Weak transcription	Brain Anterior Caudate	brain
16	chr22:31139400-31150200	Weak transcription	Brain Substantia Nigra	brain
17	chr22:31139600-31148000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:31139600-31160000	Weak transcription	Brain Germinal Matrix	brain
19	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
20	chr22:31140400-31145400	Weak transcription	Lung	lung
21	chr22:31140400-31149000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr22:31140600-31146000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:31143800-31145800	Weak transcription	K562	blood

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