Variant report

Variant	nsv327808
Chromosome Location	chr5:74482975-74486433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74481183..74484880-chr5:74486837..74490307,3	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189760644	chr5:74483051-74483052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150821800	chr5:74483096-74483097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536162494	chr5:74483105-74483106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530289752	chr5:74483115-74483116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73114817	chr5:74483128-74483129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566786108	chr5:74483163-74483164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539110239	chr5:74483194-74483195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182739241	chr5:74483224-74483225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373136103	chr5:74483275-74483276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140221728	chr5:74483284-74483285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542611668	chr5:74483313-74483314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139434331	chr5:74483338-74483339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188258279	chr5:74483352-74483353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570891713	chr5:74483361-74483362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555218477	chr5:74483372-74483373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191303009	chr5:74483386-74483387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540599940	chr5:74483411-74483412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539907606	chr5:74483412-74483413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150049458	chr5:74483470-74483471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114885709	chr5:74483485-74483486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74621668	chr5:74483487-74483488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374470778	chr5:74483502-74483503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545084371	chr5:74483506-74483507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183602679	chr5:74483598-74483599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564597486	chr5:74483633-74483634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530535846	chr5:74483667-74483668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144342796	chr5:74483708-74483709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199545286	chr5:74483779-74483780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551606510	chr5:74483944-74483945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140111880	chr5:74483969-74483970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188439861	chr5:74484021-74484022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192430758	chr5:74484067-74484068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566853614	chr5:74484080-74484081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532354044	chr5:74484142-74484143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552553513	chr5:74484151-74484152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569341926	chr5:74484171-74484172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10050948	chr5:74484275-74484276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs62369195	chr5:74484299-74484300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143293229	chr5:74484304-74484305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73763017	chr5:74484329-74484330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376837072	chr5:74484340-74484341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369845017	chr5:74484357-74484358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373298214	chr5:74484361-74484362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201635783	chr5:74484400-74484401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184949434	chr5:74484432-74484433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188050503	chr5:74484451-74484452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571512722	chr5:74484502-74484503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558152344	chr5:74484512-74484513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191409698	chr5:74484532-74484533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200132020	chr5:74484542-74484543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74479800-74497000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:74485000-74485800	Enhancers	HepG2	liver

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