Variant report

Variant	esv3337421
Chromosome Location	chr7:145685219-145687367
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	chr7:145684833..145687404-chr7:145706239..145708972,2	K562	blood:
2	chr7:145679343..145681995-chr7:145683818..145685327,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543781331	chr7:145685266-145685267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs398111991	chr7:145685275-145685276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374778946	chr7:145685276-145685277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561863573	chr7:145685330-145685331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7779212	chr7:145685355-145685356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189740807	chr7:145685383-145685384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535875580	chr7:145685426-145685427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547582495	chr7:145685530-145685531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557013347	chr7:145685570-145685571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564476081	chr7:145685582-145685583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373487403	chr7:145685589-145685590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117945705	chr7:145685590-145685591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550943545	chr7:145685611-145685612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569351478	chr7:145685620-145685621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538144428	chr7:145685650-145685651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550014750	chr7:145685656-145685657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568744579	chr7:145685660-145685661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376444076	chr7:145685696-145685697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535640789	chr7:145685697-145685698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140039908	chr7:145685704-145685705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182637391	chr7:145685736-145685737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369263456	chr7:145685749-145685750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73160621	chr7:145685758-145685759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77653501	chr7:145685761-145685762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558176496	chr7:145685771-145685772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75421915	chr7:145685782-145685783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543845250	chr7:145685798-145685799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577039258	chr7:145685801-145685802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555663177	chr7:145685802-145685803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573899324	chr7:145685828-145685829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77569509	chr7:145685829-145685830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559532523	chr7:145685836-145685837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374511002	chr7:145685855-145685856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532875711	chr7:145685897-145685898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544749950	chr7:145685914-145685915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563045553	chr7:145685917-145685918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144038721	chr7:145685949-145685950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188901831	chr7:145685982-145685983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199996640	chr7:145685993-145685994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548583997	chr7:145686006-145686007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568633404	chr7:145686018-145686019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200941299	chr7:145686023-145686024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201686604	chr7:145686047-145686048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5888188	chr7:145686071-145686072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs33974507	chr7:145686072-145686073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529695807	chr7:145686096-145686097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115960865	chr7:145686113-145686114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562908895	chr7:145686121-145686122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376457373	chr7:145686122-145686123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541896853	chr7:145686130-145686131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145683800-145686800	Weak transcription	K562	blood
2	chr7:145686800-145687000	ZNF genes & repeats	K562	blood
3	chr7:145687000-145694000	Weak transcription	K562	blood

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