Variant report

Variant	esv3329245
Chromosome Location	chr7:145160819-145162917
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	chr7:145161705..145165268-chr7:145166298..145169955,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142750573	chr7:145160819-145160820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112187650	chr7:145160833-145160834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4726767	chr7:145160876-145160877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554640010	chr7:145160885-145160886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572727777	chr7:145160900-145160901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146050682	chr7:145160901-145160902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs118035905	chr7:145160978-145160979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10952618	chr7:145160985-145160986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370982520	chr7:145160996-145160997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561469484	chr7:145160999-145161000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543485258	chr7:145161023-145161024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189595196	chr7:145161097-145161098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138733482	chr7:145161112-145161113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11763877	chr7:145161356-145161357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532357820	chr7:145161457-145161458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541976577	chr7:145161464-145161465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141129992	chr7:145161598-145161599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536972404	chr7:145161624-145161625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11763971	chr7:145161643-145161644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149418453	chr7:145161749-145161750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10250446	chr7:145161782-145161783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530378009	chr7:145161804-145161805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547190978	chr7:145161827-145161828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181528256	chr7:145161876-145161877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112235697	chr7:145161877-145161878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377721053	chr7:145161886-145161887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550981620	chr7:145161895-145161896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548512953	chr7:145161910-145161911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187158426	chr7:145161912-145161913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75067742	chr7:145162006-145162007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191132293	chr7:145162007-145162008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76747436	chr7:145162061-145162062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563842894	chr7:145162091-145162092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73154701	chr7:145162093-145162094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs558727036	chr7:145162102-145162103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144845514	chr7:145162142-145162143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544544041	chr7:145162148-145162149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148557905	chr7:145162151-145162152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117121831	chr7:145162164-145162165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541864432	chr7:145162213-145162214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374445325	chr7:145162232-145162233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527382594	chr7:145162293-145162294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538249653	chr7:145162297-145162298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183297861	chr7:145162302-145162303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565512947	chr7:145162318-145162319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532593242	chr7:145162338-145162339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145604847	chr7:145162339-145162340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185757764	chr7:145162350-145162351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1581644	chr7:145162391-145162392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548182126	chr7:145162423-145162424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145160400-145166400	Weak transcription	Pancreas	Pancrea

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