Variant report

Variant	esv3342894
Chromosome Location	chr1:144672414-144673768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 164 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191491164	chr1:144672446-144672447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183801536	chr1:144672447-144672448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61810919	chr1:144672527-144672528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587760839	chr1:144672583-144672584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79959259	chr1:144672587-144672588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587640306	chr1:144672588-144672589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587705530	chr1:144672589-144672590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78414287	chr1:144672606-144672607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587775046	chr1:144672634-144672635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112480099	chr1:144672699-144672700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113141305	chr1:144672825-144672826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201588151	chr1:144673060-144673061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199538923	chr1:144673061-144673062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587664256	chr1:144673101-144673102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587743893	chr1:144673137-144673138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587619369	chr1:144673183-144673184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587671900	chr1:144673187-144673188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587714655	chr1:144673194-144673195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587607077	chr1:144673198-144673199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587658768	chr1:144673211-144673212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200580846	chr1:144673270-144673271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587738883	chr1:144673307-144673308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113065404	chr1:144673310-144673311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140467303	chr1:144673380-144673381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587616012	chr1:144673406-144673407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587671659	chr1:144673425-144673426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587730940	chr1:144673431-144673432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587627988	chr1:144673447-144673448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587681151	chr1:144673474-144673475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199812561	chr1:144673514-144673515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377282133	chr1:144673515-144673516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587765243	chr1:144673517-144673518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200412831	chr1:144673528-144673529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142190702	chr1:144673538-144673539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587707405	chr1:144673610-144673611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587775617	chr1:144673615-144673616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1663964	chr1:144673616-144673617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587664052	chr1:144673632-144673633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587723364	chr1:144673633-144673634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587752722	chr1:144673634-144673635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587658507	chr1:144673638-144673639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587709504	chr1:144673643-144673644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587605807	chr1:144673650-144673651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587629040	chr1:144673660-144673661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587718476	chr1:144673665-144673666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587597474	chr1:144673686-144673687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587673439	chr1:144673694-144673695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112208037	chr1:144673695-144673696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587732695	chr1:144673721-144673722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:164)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	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
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144671600-144674600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:144672200-144673800	Weak transcription	HSMMtube	muscle
3	chr1:144672600-144672800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:144672600-144676200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:144672600-144691600	Weak transcription	Left Ventricle	heart
6	chr1:144672800-144674000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:144672800-144674000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:144672800-144674400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:144672800-144674400	Weak transcription	K562	blood
10	chr1:144673200-144675400	Weak transcription	Placenta	Placenta
11	chr1:144673200-144679400	Weak transcription	Liver	Liver
12	chr1:144673200-144679600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:144673400-144681600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:144673600-144675400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:144673600-144675400	Weak transcription	Muscle Satellite Cultured Cells	--

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