Variant report

Variant	esv3356814
Chromosome Location	chr7:150188419-150193017
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	chr7:150168329..150170733-chr7:150189795..150191535,2	K562	blood:

Extended variants
information (count: 255 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534341009	chr7:150188430-150188431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7783263	chr7:150188433-150188434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577195002	chr7:150188443-150188444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546072133	chr7:150188505-150188506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562806849	chr7:150188508-150188509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112219034	chr7:150188530-150188531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189064416	chr7:150188556-150188557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576577597	chr7:150188564-150188565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541973717	chr7:150188586-150188587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540601923	chr7:150188597-150188598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11977854	chr7:150188630-150188631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181843278	chr7:150188635-150188636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6464070	chr7:150188723-150188724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532994909	chr7:150188741-150188742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6464071	chr7:150188763-150188764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145470382	chr7:150188796-150188797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535755445	chr7:150188803-150188804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548894193	chr7:150188804-150188805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565912106	chr7:150188806-150188807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534013446	chr7:150188833-150188834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554274714	chr7:150188849-150188850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576940021	chr7:150188856-150188857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374237441	chr7:150188885-150188886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539419892	chr7:150188895-150188896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148843192	chr7:150188924-150188925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11971105	chr7:150188927-150188928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542159024	chr7:150188971-150188972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13307432	chr7:150188974-150188975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142558908	chr7:150188989-150188990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56232403	chr7:150188995-150188996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556076195	chr7:150189014-150189015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555680854	chr7:150189031-150189032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572631141	chr7:150189052-150189053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151086374	chr7:150189063-150189064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562295250	chr7:150189096-150189097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187664386	chr7:150189109-150189110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142582807	chr7:150189124-150189125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577670078	chr7:150189134-150189135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188985517	chr7:150189147-150189148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146904034	chr7:150189151-150189152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529198457	chr7:150189192-150189193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549286480	chr7:150189198-150189199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565720840	chr7:150189213-150189214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528254780	chr7:150189218-150189219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529399837	chr7:150189244-150189245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570565511	chr7:150189296-150189297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539555689	chr7:150189343-150189344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556130167	chr7:150189347-150189348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569763132	chr7:150189352-150189353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112314571	chr7:150189382-150189383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150180400-150199000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:150185000-150193200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr7:150186200-150192800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150187400-150192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:150188200-150191800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:150191800-150192200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:150192200-150197200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:150192800-150193000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:150192800-150193600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:150193000-150199400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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