Variant report

Variant	esv3323430
Chromosome Location	chr1:215338866-215339335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188710566	chr1:215338870-215338871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575752873	chr1:215338874-215338875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375369329	chr1:215338880-215338881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544617030	chr1:215338941-215338942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368225808	chr1:215338947-215338948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570552003	chr1:215338968-215338969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555628927	chr1:215338970-215338971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12727621	chr1:215339010-215339011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192608694	chr1:215339031-215339032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559365174	chr1:215339039-215339040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6684084	chr1:215339062-215339063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553042479	chr1:215339069-215339070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573573098	chr1:215339114-215339115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6672978	chr1:215339137-215339138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79610960	chr1:215339146-215339147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78090685	chr1:215339147-215339148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78913675	chr1:215339149-215339150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550630962	chr1:215339215-215339216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182453893	chr1:215339250-215339251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536106078	chr1:215339293-215339294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367772646	chr1:215339296-215339297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143274461	chr1:215339318-215339319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577971569	chr1:215339321-215339322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566481868	chr1:215339323-215339324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538766054	chr1:215339325-215339326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545490784	chr1:215339330-215339331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215334400-215339400	Weak transcription	Osteobl	bone
2	chr1:215334400-215340000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:215338000-215339200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:215338400-215342800	Weak transcription	NHDF-Ad	bronchial
5	chr1:215338600-215339800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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