Variant report

Variant	esv3383807
Chromosome Location	chr7:150297543-150298092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573311049	chr7:150297556-150297557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184836557	chr7:150297557-150297558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60927245	chr7:150297596-150297597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187793534	chr7:150297617-150297618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199668184	chr7:150297628-150297629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545270547	chr7:150297638-150297639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372253085	chr7:150297684-150297685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114064629	chr7:150297685-150297686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146328173	chr7:150297696-150297697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192425960	chr7:150297714-150297715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563733740	chr7:150297737-150297738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6968256	chr7:150297742-150297743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs184562781	chr7:150297745-150297746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189428250	chr7:150297749-150297750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528818805	chr7:150297777-150297778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181306028	chr7:150297796-150297797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571771171	chr7:150297804-150297805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6968278	chr7:150297805-150297806	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs59129336	chr7:150297823-150297824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567067987	chr7:150297843-150297844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144835533	chr7:150297856-150297857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535932796	chr7:150297863-150297864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552583213	chr7:150297875-150297876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374869973	chr7:150297885-150297886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6950529	chr7:150297930-150297931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569137835	chr7:150297931-150297932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200579913	chr7:150297957-150297958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538575270	chr7:150297977-150297978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6968208	chr7:150297984-150297985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs56194807	chr7:150297997-150297998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544377522	chr7:150298012-150298013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6968599	chr7:150298020-150298021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561818382	chr7:150298023-150298024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528891948	chr7:150298026-150298027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145936823	chr7:150298031-150298032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559517236	chr7:150298040-150298041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201455839	chr7:150298055-150298056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62502346	chr7:150298059-150298060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148205928	chr7:150298076-150298077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	22522925	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150292600-150300200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:150293000-150300200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:150293200-150300200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:150294400-150300200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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