Variant report

Variant	esv2455107
Chromosome Location	chr12:22269427-22270700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565324776	chr12:22269450-22269451	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs73072914	chr12:22269456-22269457	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529220066	chr12:22269481-22269482	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs150844865	chr12:22269490-22269491	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10492281	chr12:22269511-22269512	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534240812	chr12:22269533-22269534	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547923877	chr12:22269637-22269638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114771459	chr12:22269673-22269674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539472222	chr12:22269681-22269682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115366233	chr12:22269691-22269692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139324086	chr12:22269762-22269763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536190287	chr12:22269773-22269774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149592406	chr12:22269839-22269840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376630821	chr12:22269844-22269845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193217634	chr12:22269845-22269846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540688404	chr12:22269873-22269874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562792374	chr12:22269906-22269907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563858212	chr12:22269987-22269988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184609549	chr12:22270039-22270040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10718803	chr12:22270150-22270151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs398076479	chr12:22270156-22270157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs398018795	chr12:22270157-22270158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79779655	chr12:22270193-22270194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74800085	chr12:22270250-22270251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529172779	chr12:22270276-22270277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372736104	chr12:22270312-22270313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74071003	chr12:22270321-22270322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528311053	chr12:22270375-22270376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528151306	chr12:22270442-22270443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188975419	chr12:22270447-22270448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547884796	chr12:22270460-22270461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570936785	chr12:22270462-22270463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542375462	chr12:22270483-22270484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368666611	chr12:22270490-22270491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144323190	chr12:22270499-22270500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533502990	chr12:22270501-22270502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12829732	chr12:22270584-22270585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570035598	chr12:22270594-22270595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535734218	chr12:22270604-22270605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12831501	chr12:22270632-22270633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369128002	chr12:22270634-22270635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565903563	chr12:22270635-22270636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544954584	chr12:22270666-22270667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22256000-22271000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:22268400-22269600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:22268400-22269600	Enhancers	Fetal Brain Male	brain
4	chr12:22268600-22272000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:22269000-22269600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr12:22269200-22269600	Flanking Active TSS	Left Ventricle	heart
7	chr12:22269200-22270200	Enhancers	Fetal Heart	heart
8	chr12:22269200-22270400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:22269200-22271000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:22269200-22272400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:22269400-22269600	Bivalent/Poised TSS	Small Intestine	intestine
12	chr12:22269400-22269800	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:22269400-22271200	Weak transcription	Fetal Brain Female	brain
14	chr12:22269600-22271000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:22269600-22271000	Weak transcription	Fetal Brain Male	brain
16	chr12:22269800-22270200	Enhancers	Brain Hippocampus Middle	brain
17	chr12:22269800-22271600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:22270000-22271000	Enhancers	Brain Substantia Nigra	brain
19	chr12:22270200-22270600	Weak transcription	Fetal Heart	heart
20	chr12:22270400-22271000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:22270400-22271200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:22270600-22271000	Enhancers	Fetal Lung	lung
23	chr12:22270600-22271400	Enhancers	Fetal Heart	heart

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