Variant report

Variant	nsv966750
Chromosome Location	chr7:5159673-5163477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMD2-3	chr7:5160941-5161854	NR_034163

Extended variants
information (count: 210 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55674829	chr7:5159690-5159691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533929888	chr7:5159699-5159700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6971347	chr7:5159704-5159705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576883980	chr7:5159705-5159706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12673213	chr7:5159711-5159712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556309664	chr7:5159735-5159736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370034870	chr7:5159784-5159785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186453976	chr7:5159799-5159800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542194685	chr7:5159814-5159815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191527526	chr7:5159833-5159834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572800863	chr7:5159871-5159872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540190998	chr7:5159883-5159884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564982020	chr7:5159907-5159908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181212503	chr7:5159919-5159920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373573254	chr7:5159921-5159922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544442416	chr7:5159965-5159966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541495985	chr7:5159986-5159987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186236271	chr7:5159998-5159999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529889384	chr7:5160012-5160013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529440386	chr7:5160025-5160026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566713034	chr7:5160031-5160032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527685237	chr7:5160032-5160033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552116484	chr7:5160066-5160067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374333497	chr7:5160070-5160071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368178740	chr7:5160076-5160077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138889993	chr7:5160078-5160079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568603533	chr7:5160079-5160080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149414515	chr7:5160091-5160092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12534097	chr7:5160095-5160096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572658464	chr7:5160113-5160114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139758678	chr7:5160119-5160120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190757844	chr7:5160139-5160140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576887320	chr7:5160149-5160150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183265324	chr7:5160151-5160152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562598876	chr7:5160167-5160168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529852043	chr7:5160170-5160171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144186085	chr7:5160203-5160204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560200085	chr7:5160204-5160205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79436126	chr7:5160220-5160221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62441973	chr7:5160234-5160235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs62441974	chr7:5160247-5160248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531590120	chr7:5160256-5160257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550056530	chr7:5160264-5160265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545786314	chr7:5160285-5160286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77843264	chr7:5160331-5160332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111257629	chr7:5160352-5160353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187583457	chr7:5160382-5160383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554309060	chr7:5160402-5160403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145800124	chr7:5160410-5160411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369299517	chr7:5160437-5160438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5157600-5170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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