Variant report

Variant	rs58148022
Chromosome Location	chr12:48495974-48495975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48492914..48496557-chr12:48498180..48501677,4	MCF-7	breast:
2	chr12:48495831..48503326-chr12:48548997..48555180,8	K562	blood:

Variant related genes	Relation type
ENSG00000258051	Chromatin interaction
ENSG00000079387	Chromatin interaction
ENSG00000177981	Chromatin interaction
ENSG00000152556	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55759881	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55789595	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55991805	0.83[AMR][1000 genomes]
rs57539024	0.83[AMR][1000 genomes]
rs58373242	1.00[AMR][1000 genomes]
rs59051221	0.83[AMR][1000 genomes]
rs59643562	0.83[AMR][1000 genomes]
rs59787033	0.83[AMR][1000 genomes]
rs59896935	0.83[AMR][1000 genomes]
rs60001451	0.83[AMR][1000 genomes]
rs60316794	0.83[AMR][1000 genomes]
rs61356079	0.82[AFR][1000 genomes]
rs61558457	0.83[AMR][1000 genomes]
rs61750873	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7316275	0.83[AMR][1000 genomes]
rs74086781	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086968	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086984	0.83[AMR][1000 genomes]
rs74089112	0.83[AMR][1000 genomes]
rs74089120	0.83[AMR][1000 genomes]
rs74089127	0.83[AMR][1000 genomes]
rs74089135	0.83[AMR][1000 genomes]
rs74089149	0.83[AMR][1000 genomes]
rs74089151	0.83[AMR][1000 genomes]
rs74089154	0.83[AMR][1000 genomes]
rs74089161	0.83[AMR][1000 genomes]
rs74089171	0.83[AMR][1000 genomes]
rs74089530	0.84[AFR][1000 genomes]
rs74089540	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089549	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089550	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:48453000-48498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:48468600-48498400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48468800-48498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:48470200-48497600	Weak transcription	Fetal Heart	heart
6	chr12:48475000-48498200	Weak transcription	Psoas Muscle	Psoas
7	chr12:48476800-48498400	Weak transcription	Fetal Brain Male	brain
8	chr12:48477200-48498200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:48477400-48498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48479400-48498200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:48479400-48498200	Weak transcription	Brain Angular Gyrus	brain
12	chr12:48479400-48498400	Weak transcription	Aorta	Aorta
13	chr12:48479600-48498000	Weak transcription	NHEK	skin
14	chr12:48480400-48498200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:48482800-48498200	Weak transcription	NHDF-Ad	bronchial
16	chr12:48483000-48498200	Weak transcription	NH-A	brain
17	chr12:48483000-48498400	Weak transcription	HSMMtube	muscle
18	chr12:48483200-48498200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:48483200-48498200	Weak transcription	HepG2	liver
20	chr12:48483200-48498400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:48483200-48499200	Weak transcription	Small Intestine	intestine
22	chr12:48483400-48498200	Weak transcription	NHLF	lung
23	chr12:48484800-48498200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:48485000-48498200	Weak transcription	Spleen	Spleen
25	chr12:48486200-48499000	Weak transcription	Gastric	stomach
26	chr12:48486400-48497800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:48488000-48496800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:48488000-48498200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:48488200-48497600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:48488200-48498200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:48488200-48498200	Weak transcription	Lung	lung
32	chr12:48488200-48498200	Weak transcription	Pancreas	Pancrea
33	chr12:48488200-48498400	Weak transcription	Brain Substantia Nigra	brain
34	chr12:48488200-48499200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:48488400-48498200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:48488400-48498400	Weak transcription	Right Ventricle	heart
37	chr12:48489000-48498200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:48489600-48497200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:48489600-48498400	Weak transcription	Left Ventricle	heart
40	chr12:48489600-48499000	Weak transcription	Esophagus	oesophagus
41	chr12:48489800-48498200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:48489800-48498200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:48489800-48498200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:48489800-48498400	Weak transcription	Thymus	Thymus
45	chr12:48490000-48497600	Weak transcription	Brain Anterior Caudate	brain
46	chr12:48490000-48498400	Weak transcription	Colonic Mucosa	Colon
47	chr12:48490200-48497600	Weak transcription	Fetal Brain Female	brain
48	chr12:48490200-48498200	Weak transcription	Brain Germinal Matrix	brain
49	chr12:48490200-48498200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:48490200-48498200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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