Variant report

Variant	esv3336079
Chromosome Location	chr1:175783377-175785146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547931942	chr1:175783738-175783739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566635572	chr1:175783754-175783755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148858894	chr1:175783755-175783756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555623887	chr1:175783765-175783766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552245532	chr1:175783779-175783780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575499710	chr1:175783800-175783801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75743299	chr1:175784038-175784039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563100083	chr1:175784069-175784070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74129347	chr1:175784092-175784093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138073862	chr1:175784177-175784178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72709234	chr1:175784179-175784180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375920883	chr1:175784209-175784210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139832684	chr1:175784215-175784216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35139085	chr1:175784216-175784217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs66473938	chr1:175784223-175784224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72254913	chr1:175784234-175784235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71565446	chr1:175784243-175784244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397780419	chr1:175784244-175784245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201651615	chr1:175784246-175784247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187105255	chr1:175784248-175784249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373293835	chr1:175784262-175784263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537654001	chr1:175784292-175784293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191659066	chr1:175784330-175784331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113141271	chr1:175784343-175784344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6656072	chr1:175784378-175784379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535090083	chr1:175784384-175784385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547820462	chr1:175784389-175784390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183759730	chr1:175784396-175784397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187985685	chr1:175784450-175784451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76866508	chr1:175784483-175784484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534064989	chr1:175784489-175784490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12733387	chr1:175784512-175784513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553823116	chr1:175784532-175784533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372955940	chr1:175784606-175784607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148290540	chr1:175784689-175784690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141427565	chr1:175784716-175784717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75409799	chr1:175784809-175784810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576731227	chr1:175784833-175784834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139298861	chr1:175784849-175784850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565609980	chr1:175784885-175784886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568281139	chr1:175784910-175784911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545620678	chr1:175784913-175784914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527674383	chr1:175784940-175784941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143935070	chr1:175784977-175784978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147298363	chr1:175785036-175785037	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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175783600-175783800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:175784000-175786200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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