Variant report

Variant	nsv291
Chromosome Location	chr7:4618231-4641269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 267 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535717211	chr7:4618238-4618239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555559788	chr7:4618243-4618244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs575384238	chr7:4618285-4618286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559256253	chr7:4618286-4618287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187983841	chr7:4618295-4618296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs112150121	chr7:4618298-4618299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs578004982	chr7:4618314-4618315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540241654	chr7:4618322-4618323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554527734	chr7:4618329-4618330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541911370	chr7:4618345-4618346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs139298970	chr7:4618350-4618351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149995208	chr7:4618367-4618368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs562683526	chr7:4618372-4618373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs145194822	chr7:4618380-4618381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs370358634	chr7:4618399-4618400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542275763	chr7:4618438-4618439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551503318	chr7:4618501-4618502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142319764	chr7:4618530-4618531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs573088178	chr7:4618537-4618538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs547096362	chr7:4618540-4618541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs566892136	chr7:4618544-4618545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529543324	chr7:4618546-4618547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs549224090	chr7:4618570-4618571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534058532	chr7:4618576-4618577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs35220043	chr7:4618610-4618611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569147069	chr7:4618618-4618619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78030731	chr7:4618621-4618622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs558257917	chr7:4618637-4618638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571633859	chr7:4618679-4618680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs577063137	chr7:4618689-4618690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534263385	chr7:4618711-4618712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs144938499	chr7:4618755-4618756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs574042605	chr7:4618789-4618790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542986270	chr7:4618811-4618812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138071565	chr7:4618850-4618851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556495675	chr7:4618852-4618853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576215563	chr7:4618866-4618867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78817867	chr7:4618881-4618882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs565060471	chr7:4618890-4618891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527420191	chr7:4618897-4618898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141780575	chr7:4618914-4618915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377389321	chr7:4618938-4618939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529630918	chr7:4618958-4618959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557294725	chr7:4618978-4618979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs544024549	chr7:4618985-4618986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191245248	chr7:4618991-4618992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77583982	chr7:4618998-4618999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs551697242	chr7:4619035-4619036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs115443289	chr7:4619040-4619041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143754758	chr7:4619093-4619094	ZNF genes & repeats	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4618000-4618800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:4618200-4619200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:4619200-4621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:4621400-4621600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:4621800-4622000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:4640000-4640400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:4640400-4642400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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