Variant report

Variant	nsv826508
Chromosome Location	chr12:105680952-105681730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143502140	chr12:105680974-105680975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536509717	chr12:105681045-105681046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553649567	chr12:105681100-105681101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533604979	chr12:105681119-105681120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573308959	chr12:105681120-105681121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368666438	chr12:105681157-105681158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10861376	chr12:105681186-105681187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147201930	chr12:105681238-105681239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79898742	chr12:105681248-105681249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185899298	chr12:105681274-105681275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148655335	chr12:105681293-105681294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574391191	chr12:105681300-105681301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75212021	chr12:105681322-105681323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560402009	chr12:105681339-105681340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190655357	chr12:105681355-105681356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552389508	chr12:105681374-105681375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565034844	chr12:105681392-105681393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530941679	chr12:105681425-105681426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550546729	chr12:105681508-105681509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567293688	chr12:105681523-105681524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530107426	chr12:105681585-105681586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546936976	chr12:105681596-105681597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567192401	chr12:105681608-105681609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538851171	chr12:105681673-105681674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75232757	chr12:105681676-105681677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12827086	chr12:105681677-105681678	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369885199	chr12:105681696-105681697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182514770	chr12:105681710-105681711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73399769	chr12:105681719-105681720	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105675800-105681200	Weak transcription	Stomach Mucosa	stomach
2	chr12:105676200-105681400	Weak transcription	HepG2	liver
3	chr12:105676400-105681400	Weak transcription	A549	lung
4	chr12:105681200-105682400	Enhancers	Stomach Mucosa	stomach
5	chr12:105681400-105681800	Enhancers	HepG2	liver
6	chr12:105681600-105682200	Enhancers	Gastric	stomach
7	chr12:105681600-105686200	Weak transcription	A549	lung

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