Variant report

Variant	esv2762991
Chromosome Location	chr12:73333450-73346285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:73329562..73331929-chr12:73334253..73335865,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186816511	chr12:73336071-73336072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190962698	chr12:73336086-73336087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560251842	chr12:73336087-73336088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527302121	chr12:73336090-73336091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545768799	chr12:73336104-73336105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565448564	chr12:73336119-73336120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532880272	chr12:73336144-73336145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550987760	chr12:73336189-73336190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs118170934	chr12:73336283-73336284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74103841	chr12:73336322-73336323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4472999	chr12:73336351-73336352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570594045	chr12:73336391-73336392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183150470	chr12:73336438-73336439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548291410	chr12:73336439-73336440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377505284	chr12:73336490-73336491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76748104	chr12:73336516-73336517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74103842	chr12:73336522-73336523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531534952	chr12:73336577-73336578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558991237	chr12:73336593-73336594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34274692	chr12:73336596-73336597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73336551	chr12:73336625-73336626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189664262	chr12:73336694-73336695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12369429	chr12:73336709-73336710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574587356	chr12:73336796-73336797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554498930	chr12:73336857-73336858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553907554	chr12:73336868-73336869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576619322	chr12:73336877-73336878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116446529	chr12:73336891-73336892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564171510	chr12:73336908-73336909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574502801	chr12:73336960-73336961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545903433	chr12:73336968-73336969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564154630	chr12:73336989-73336990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142147740	chr12:73336994-73336995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377453815	chr12:73337038-73337039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544924435	chr12:73337100-73337101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112660139	chr12:73337218-73337219	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530252849	chr12:73337219-73337220	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183439387	chr12:73337220-73337221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187985498	chr12:73337225-73337226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs192829507	chr12:73337241-73337242	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs372296377	chr12:73337261-73337262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112922247	chr12:73337270-73337271	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183493353	chr12:73337345-73337346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34623600	chr12:73337364-73337365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs35571866	chr12:73337419-73337420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570856572	chr12:73337426-73337427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537815994	chr12:73337449-73337450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556439809	chr12:73337471-73337472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568215398	chr12:73337540-73337541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144453741	chr12:73337558-73337559	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73336000-73338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:73337200-73339800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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