Variant report

Variant	esv12935
Chromosome Location	chr1:153215870-153216495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153211248..153213332-chr1:153213671..153216662,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114203395	chr1:153215871-153215872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116378114	chr1:153215874-153215875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549694397	chr1:153215879-153215880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200381665	chr1:153215881-153215882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61803277	chr1:153215887-153215888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538376199	chr1:153215894-153215895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71517766	chr1:153215913-153215914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111329648	chr1:153215920-153215921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113166351	chr1:153215924-153215925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111429033	chr1:153215937-153215938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113690178	chr1:153215940-153215941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552268032	chr1:153215948-153215949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111162640	chr1:153215965-153215966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111162641	chr1:153215968-153215969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111214280	chr1:153215971-153215972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556121675	chr1:153215980-153215981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111214268	chr1:153216002-153216003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367882879	chr1:153216007-153216008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373666907	chr1:153216034-153216035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371720215	chr1:153216039-153216040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376838346	chr1:153216059-153216060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371075379	chr1:153216062-153216063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374078701	chr1:153216065-153216066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372692491	chr1:153216082-153216083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571716729	chr1:153216108-153216109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534272778	chr1:153216112-153216113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377497621	chr1:153216128-153216129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370369562	chr1:153216153-153216154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111162281	chr1:153216156-153216157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368555162	chr1:153216159-153216160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111162279	chr1:153216195-153216196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111162642	chr1:153216222-153216223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375906005	chr1:153216223-153216224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111162280	chr1:153216247-153216248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575293735	chr1:153216250-153216251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368207642	chr1:153216270-153216271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62651608	chr1:153216289-153216290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372405989	chr1:153216317-153216318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9435976	chr1:153216341-153216342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377158681	chr1:153216364-153216365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369175830	chr1:153216411-153216412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12073498	chr1:153216415-153216416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28972125	chr1:153216435-153216436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372394982	chr1:153216438-153216439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373932363	chr1:153216458-153216459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573983034	chr1:153216466-153216467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
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
Retinoblastoma	19183342	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
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
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153211400-153221200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:153214400-153217800	Weak transcription	Right Atrium	heart
3	chr1:153215000-153217800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:153215800-153216000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:153215800-153216800	Weak transcription	Esophagus	oesophagus
6	chr1:153216000-153217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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