Variant report

Variant	esv2542407
Chromosome Location	chr7:110002566-110004015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542341728	chr7:110002568-110002569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539618768	chr7:110002574-110002575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546432208	chr7:110002651-110002652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10085413	chr7:110002668-110002669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140928281	chr7:110002750-110002751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535715800	chr7:110002840-110002841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555426666	chr7:110002847-110002848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528070735	chr7:110002857-110002858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150226858	chr7:110002877-110002878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138860997	chr7:110002902-110002903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141998610	chr7:110002936-110002937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577408582	chr7:110002946-110002947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141904040	chr7:110002947-110002948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192932196	chr7:110002972-110002973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75835307	chr7:110002988-110002989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185042352	chr7:110002992-110002993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573214807	chr7:110002995-110002996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190329252	chr7:110003012-110003013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144779899	chr7:110003027-110003028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570918701	chr7:110003028-110003029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530798976	chr7:110003058-110003059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6972687	chr7:110003084-110003085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564609254	chr7:110003102-110003103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551675801	chr7:110003118-110003119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181807444	chr7:110003161-110003162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533230340	chr7:110003169-110003170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537693205	chr7:110003190-110003191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543851637	chr7:110003195-110003196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138648587	chr7:110003222-110003223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149327556	chr7:110003228-110003229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144591611	chr7:110003230-110003231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568909866	chr7:110003250-110003251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537842482	chr7:110003251-110003252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557419355	chr7:110003303-110003304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571326731	chr7:110003326-110003327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533617139	chr7:110003360-110003361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555578638	chr7:110003384-110003385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28623323	chr7:110003398-110003399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542151000	chr7:110003402-110003403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148409761	chr7:110003428-110003429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200726934	chr7:110003454-110003455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371848523	chr7:110003458-110003459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575801889	chr7:110003465-110003466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141626071	chr7:110003496-110003497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73716168	chr7:110003506-110003507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538913379	chr7:110003513-110003514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533490630	chr7:110003518-110003519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147177728	chr7:110003538-110003539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557256413	chr7:110003626-110003627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140414160	chr7:110003628-110003629	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109981400-110006200	Weak transcription	Dnd41	blood
2	chr7:109996400-110007800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:110003800-110004200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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