Variant report

Variant	esv3365288
Chromosome Location	chr7:125767050-125783799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:125760007..125761516-chr7:125765341..125767216,2	K562	blood:
2	chr7:125782315..125785004-chr7:125785020..125787237,2	MCF-7	breast:
3	chr7:125779581..125782022-chr7:125791583..125793511,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199992950	chr7:125777804-125777805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373553294	chr7:125777824-125777825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574251620	chr7:125777834-125777835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147833716	chr7:125777849-125777850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565397432	chr7:125777884-125777885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141311970	chr7:125777897-125777898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs642710	chr7:125777907-125777908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530567611	chr7:125777914-125777915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7783120	chr7:125777917-125777918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563950995	chr7:125777939-125777940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386717588	chr7:125777959-125777960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs653569	chr7:125777978-125777979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78301112	chr7:125777985-125777986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114075025	chr7:125777995-125777996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4431537	chr7:125778020-125778021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550742552	chr7:125778050-125778051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs653984	chr7:125778070-125778071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs653985	chr7:125778073-125778074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558248173	chr7:125778128-125778129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188233492	chr7:125778159-125778160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113721614	chr7:125778210-125778211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201619720	chr7:125778223-125778224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112367453	chr7:125778224-125778225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34576748	chr7:125778225-125778226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56963495	chr7:125778226-125778227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560487104	chr7:125778261-125778262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192921043	chr7:125778279-125778280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114329589	chr7:125778286-125778287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62479275	chr7:125778353-125778354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544886925	chr7:125778369-125778370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62479276	chr7:125778448-125778449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568933688	chr7:125778468-125778469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527816929	chr7:125778492-125778493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143630111	chr7:125778576-125778577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537601385	chr7:125778584-125778585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545512707	chr7:125778609-125778610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148172603	chr7:125778612-125778613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202210636	chr7:125778648-125778649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372474853	chr7:125778649-125778650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567959926	chr7:125778665-125778666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114872766	chr7:125778675-125778676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143025365	chr7:125778679-125778680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561915024	chr7:125778706-125778707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542726583	chr7:125778721-125778722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533815319	chr7:125778723-125778724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550808683	chr7:125778737-125778738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117366762	chr7:125778766-125778767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553685781	chr7:125778917-125778918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533329799	chr7:125778965-125778966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572867410	chr7:125778981-125778982	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125777800-125778200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:125777800-125779000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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