Variant report

Variant	esv3324701
Chromosome Location	chr12:119565769-119570267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562459940	chr12:119565772-119565773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140759616	chr12:119565820-119565821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569297701	chr12:119565863-119565864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74716531	chr12:119565864-119565865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565089185	chr12:119565936-119565937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189007809	chr12:119566006-119566007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534358547	chr12:119566022-119566023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560661590	chr12:119566028-119566029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529352797	chr12:119566045-119566046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549005595	chr12:119566047-119566048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557315981	chr12:119566049-119566050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78679931	chr12:119566084-119566085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538152348	chr12:119566111-119566112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551624720	chr12:119566138-119566139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181626579	chr12:119566161-119566162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186354074	chr12:119566248-119566249	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571935911	chr12:119566277-119566278	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554058829	chr12:119566305-119566306	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565791952	chr12:119566306-119566307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7954884	chr12:119566328-119566329	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564921467	chr12:119566344-119566345	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs68088616	chr12:119566410-119566411	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574160984	chr12:119566413-119566414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556200538	chr12:119566463-119566464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543158675	chr12:119566471-119566472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576070469	chr12:119566472-119566473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150088674	chr12:119566474-119566475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565146858	chr12:119566498-119566499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138312680	chr12:119566520-119566521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7956019	chr12:119566535-119566536	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs560915396	chr12:119566555-119566556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573363746	chr12:119566574-119566575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545450193	chr12:119566594-119566595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565254476	chr12:119566640-119566641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377609895	chr12:119566658-119566659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149644312	chr12:119566674-119566675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73410037	chr12:119566693-119566694	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549019926	chr12:119566717-119566718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144329562	chr12:119566729-119566730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531569686	chr12:119566746-119566747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73213779	chr12:119566751-119566752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139272140	chr12:119566781-119566782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537491690	chr12:119566794-119566795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556128306	chr12:119566831-119566832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143105100	chr12:119566843-119566844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371274317	chr12:119566851-119566852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534216041	chr12:119566858-119566859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548015099	chr12:119566905-119566906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567705483	chr12:119566916-119566917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543364183	chr12:119566928-119566929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119535200-119568800	Weak transcription	Fetal Brain Male	brain
2	chr12:119553600-119567600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:119553800-119569000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:119560600-119567000	Strong transcription	Brain Germinal Matrix	brain
5	chr12:119561000-119568000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:119563800-119568000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:119564600-119566000	Weak transcription	Fetal Brain Female	brain
8	chr12:119566000-119569200	Strong transcription	Fetal Brain Female	brain
9	chr12:119566200-119566400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:119566600-119569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:119567000-119568400	Weak transcription	Brain Germinal Matrix	brain
12	chr12:119567600-119568000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
13	chr12:119568000-119569600	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr12:119568000-119569600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:119568000-119573200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:119568400-119568800	Strong transcription	Brain Germinal Matrix	brain
17	chr12:119568800-119571200	ZNF genes & repeats	Fetal Brain Male	brain
18	chr12:119568800-119572000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr12:119568800-119572800	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr12:119569000-119569200	Strong transcription	Brain Angular Gyrus	brain
21	chr12:119569200-119569400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:119569200-119569400	Weak transcription	Brain Angular Gyrus	brain
23	chr12:119569200-119572800	ZNF genes & repeats	Fetal Brain Female	brain
24	chr12:119569400-119569800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:119569400-119570400	ZNF genes & repeats	Brain Angular Gyrus	brain
26	chr12:119569600-119571400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr12:119569600-119571400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:119569800-119570600	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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