Variant report

Variant	esv16266
Chromosome Location	chr1:194936155-194946091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
2	chr1:194940992..194943005-chr1:194943083..194945420,2	MCF-7	breast:
3	chr1:194940992..194943005-chr1:194943083..194945420,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 92 )

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	rs72746093	chr1:194936207-194936208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72746096	chr1:194936212-194936213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554828771	chr1:194936214-194936215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569897725	chr1:194936217-194936218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78162599	chr1:194936248-194936249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2055535	chr1:194936254-194936255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139622035	chr1:194936255-194936256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556500368	chr1:194936295-194936296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544641560	chr1:194936318-194936319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115386476	chr1:194936388-194936389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116718677	chr1:194937455-194937456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563601325	chr1:194937503-194937504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189764277	chr1:194937517-194937518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531116884	chr1:194937525-194937526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112672338	chr1:194937546-194937547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570727587	chr1:194937587-194937588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534940996	chr1:194937592-194937593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182425100	chr1:194937593-194937594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180308	chr1:194937595-194937596	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565677805	chr1:194937601-194937602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532375678	chr1:194937607-194937608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536202703	chr1:194937629-194937630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554608061	chr1:194937693-194937694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576377192	chr1:194937711-194937712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111348225	chr1:194937716-194937717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149019330	chr1:194937722-194937723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145852690	chr1:194937730-194937731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540913511	chr1:194937737-194937738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559789300	chr1:194937756-194937757	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194934800-194936400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:194937400-194937800	Enhancers	Brain Germinal Matrix	brain

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