Variant report

Variant	esv3384884
Chromosome Location	chr1:195547629-195551827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 93 )

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	rs564498654	chr1:195548133-195548134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552549863	chr1:195548138-195548139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532119745	chr1:195548145-195548146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2790074	chr1:195548179-195548180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189523506	chr1:195548223-195548224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183267301	chr1:195548224-195548225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144382437	chr1:195548235-195548236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56752757	chr1:195548258-195548259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536933036	chr1:195548307-195548308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574912166	chr1:195548308-195548309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558745353	chr1:195548331-195548332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577109548	chr1:195548340-195548341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535166018	chr1:195548357-195548358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553516163	chr1:195548371-195548372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148367999	chr1:195548381-195548382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542232606	chr1:195548457-195548458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143238941	chr1:195548481-195548482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549409542	chr1:195548482-195548483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575919906	chr1:195548491-195548492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546175007	chr1:195548524-195548525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537143799	chr1:195548527-195548528	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195548000-195548600	Enhancers	Rectal Mucosa Donor 31	rectum

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