Variant report

Variant	nsv508229
Chromosome Location	chr3:98896531-98918586
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	chr3:98898412..98900467-chr3:98901353..98902956,2	MCF-7	breast:
2	chr3:98898412..98900467-chr3:98901353..98902956,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST3GAL6-6	chr3:98904502-98904611	NONHSAT090838
2	lnc-ST3GAL6-6	chr3:98899387-98899480	NONHSAT090838

Extended variants
information (count: 663 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544425349	chr3:98896597-98896598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185909993	chr3:98896663-98896664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554465402	chr3:98896708-98896709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73147972	chr3:98896768-98896769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190024633	chr3:98896788-98896789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560211947	chr3:98896811-98896812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1818726	chr3:98896836-98896837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs72936861	chr3:98896873-98896874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1818727	chr3:98896890-98896891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569831463	chr3:98896892-98896893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531226775	chr3:98896901-98896902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144972756	chr3:98896962-98896963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181279463	chr3:98897017-98897018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531715087	chr3:98897025-98897026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567712623	chr3:98897052-98897053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530218061	chr3:98897087-98897088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9868619	chr3:98897094-98897095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537235173	chr3:98897142-98897143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13063402	chr3:98897157-98897158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13063415	chr3:98897176-98897177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13063423	chr3:98897184-98897185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149056099	chr3:98897191-98897192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558607042	chr3:98897220-98897221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186328196	chr3:98897242-98897243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372444016	chr3:98897283-98897284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368403466	chr3:98897284-98897285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386397380	chr3:98897289-98897290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56096200	chr3:98897292-98897293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28831506	chr3:98897293-98897294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13063617	chr3:98897304-98897305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13068052	chr3:98897306-98897307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80039691	chr3:98897358-98897359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533175286	chr3:98897381-98897382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537740627	chr3:98897399-98897400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577061652	chr3:98897402-98897403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148255979	chr3:98897407-98897408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145115978	chr3:98897408-98897409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377562516	chr3:98897409-98897410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35516451	chr3:98897410-98897411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200659327	chr3:98897411-98897412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554759019	chr3:98897465-98897466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369272649	chr3:98897543-98897544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62277399	chr3:98897549-98897550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533903012	chr3:98897568-98897569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553942326	chr3:98897579-98897580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576990780	chr3:98897596-98897597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112121724	chr3:98897600-98897601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142064457	chr3:98897646-98897647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190732712	chr3:98897690-98897691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199828205	chr3:98897719-98897720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98879200-98899200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:98899200-98899600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:98899200-98899600	Enhancers	NHEK	skin
4	chr3:98899200-98900200	Enhancers	HMEC	breast
5	chr3:98901800-98912400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:98904600-98906000	Weak transcription	Aorta	Aorta
7	chr3:98906000-98906200	ZNF genes & repeats	Aorta	Aorta
8	chr3:98910000-98910200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:98910000-98910200	Enhancers	HSMMtube	muscle
10	chr3:98910000-98910800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:98911000-98911400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:98915200-98918000	Active TSS	Fetal Thymus	thymus
13	chr3:98918000-98918400	Enhancers	Fetal Thymus	thymus

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