Variant report

Variant	esv1821780
Chromosome Location	chr7:56762429-56764961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11771122	chr7:56762429-56762430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575558832	chr7:56762453-56762454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116198657	chr7:56762455-56762456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570284695	chr7:56762470-56762471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11238423	chr7:56762492-56762493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181497525	chr7:56762519-56762520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568695566	chr7:56762547-56762548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199645490	chr7:56762555-56762556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573715748	chr7:56762619-56762620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541102697	chr7:56762676-56762677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370470719	chr7:56762677-56762678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186507258	chr7:56762710-56762711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577826972	chr7:56762718-56762719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111589414	chr7:56762746-56762747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563340627	chr7:56762755-56762756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2331283	chr7:56762851-56762852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111800229	chr7:56762927-56762928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542595742	chr7:56762948-56762949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561730977	chr7:56763003-56763004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114144401	chr7:56763035-56763036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75851260	chr7:56763170-56763171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571112987	chr7:56763188-56763189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572812047	chr7:56763801-56763802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543172827	chr7:56763886-56763887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182880660	chr7:56763980-56763981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559370202	chr7:56764022-56764023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533458139	chr7:56764052-56764053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551621206	chr7:56764111-56764112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78656356	chr7:56764118-56764119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150901698	chr7:56764123-56764124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113775346	chr7:56764135-56764136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527342508	chr7:56764144-56764145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567914876	chr7:56764151-56764152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535338713	chr7:56764185-56764186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74909895	chr7:56764258-56764259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571194708	chr7:56764296-56764297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544136704	chr7:56764325-56764326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538710575	chr7:56764347-56764348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556806644	chr7:56764351-56764352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541626504	chr7:56764370-56764371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368559956	chr7:56764371-56764372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575313062	chr7:56764377-56764378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536001739	chr7:56764378-56764379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6954720	chr7:56764434-56764435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6974093	chr7:56764440-56764441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554432029	chr7:56764513-56764514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577114978	chr7:56764552-56764553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79789495	chr7:56764568-56764569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559685948	chr7:56764574-56764575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577983748	chr7:56764664-56764665	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56762200-56763200	Weak transcription	Dnd41	blood
2	chr7:56763800-56765400	Enhancers	Dnd41	blood

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