Variant report

Variant	esv3447916
Chromosome Location	chr1:193321822-193322044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140454531	chr1:193321845-193321846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180822894	chr1:193321851-193321852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563724537	chr1:193321873-193321874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371061831	chr1:193321875-193321876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371728108	chr1:193321876-193321877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72345721	chr1:193321882-193321883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2066147	chr1:193321883-193321884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71111470	chr1:193321884-193321885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10921342	chr1:193321885-193321886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544245773	chr1:193321886-193321887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201593472	chr1:193321887-193321888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75229975	chr1:193321897-193321898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59065231	chr1:193321915-193321916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200097275	chr1:193321919-193321920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529449637	chr1:193321933-193321934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10921343	chr1:193321951-193321952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138664028	chr1:193321985-193321986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74958663	chr1:193321986-193321987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116456617	chr1:193321990-193321991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543212380	chr1:193321997-193321998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532972379	chr1:193322011-193322012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193311000-193324000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:193316400-193323400	Weak transcription	Stomach Mucosa	stomach
3	chr1:193317800-193324800	Weak transcription	Psoas Muscle	Psoas
4	chr1:193318600-193323800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:193318600-193325400	Weak transcription	HSMM	muscle
6	chr1:193320000-193325400	Weak transcription	HSMMtube	muscle
7	chr1:193321000-193325000	Weak transcription	Fetal Lung	lung

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