Variant report

Variant	nsv560046
Chromosome Location	chr12:104286772-104287310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7295499	chr12:104286804-104286805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542887431	chr12:104286805-104286806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563323175	chr12:104286807-104286808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146855875	chr12:104286864-104286865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559321722	chr12:104286876-104286877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7314790	chr12:104286891-104286892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs376073189	chr12:104286921-104286922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149002364	chr12:104286952-104286953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7298655	chr12:104286956-104286957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs530435679	chr12:104286957-104286958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550131459	chr12:104287071-104287072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566900125	chr12:104287074-104287075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143798598	chr12:104287075-104287076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10778301	chr12:104287077-104287078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs566998356	chr12:104287085-104287086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137877558	chr12:104287111-104287112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60163398	chr12:104287112-104287113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2583235	chr12:104287115-104287116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192252975	chr12:104287134-104287135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569337597	chr12:104287144-104287145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148172324	chr12:104287146-104287147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555032471	chr12:104287174-104287175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555126716	chr12:104287190-104287191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73386186	chr12:104287274-104287275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7964542	chr12:104287310-104287311	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
Acute lymphoblastic leukemia	21339820	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
2	chr12:104284600-104288000	Weak transcription	Lung	lung
3	chr12:104284600-104294200	Weak transcription	Thymus	Thymus

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