Variant report

Variant	nsv591093
Chromosome Location	chr3:98895650-98901389
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	chr3:98896222-98896357	NONHSAT090838
2	lnc-ST3GAL6-6	chr3:98899387-98899480	NONHSAT090838

Extended variants
information (count: 149 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2682410	chr3:98895650-98895651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77044071	chr3:98895682-98895683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115411781	chr3:98895705-98895706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567636224	chr3:98895774-98895775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181417026	chr3:98895789-98895790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78750539	chr3:98895794-98895795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572840420	chr3:98895803-98895804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116128084	chr3:98895815-98895816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558336542	chr3:98895855-98895856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552564008	chr3:98895897-98895898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2681447	chr3:98896016-98896017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561073841	chr3:98896053-98896054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143435310	chr3:98896061-98896062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540269268	chr3:98896109-98896110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73859821	chr3:98896115-98896116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528797922	chr3:98896121-98896122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146247392	chr3:98896160-98896161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73859822	chr3:98896201-98896202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149925287	chr3:98896205-98896206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550871339	chr3:98896206-98896207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567791532	chr3:98896241-98896242	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs9824877	chr3:98896242-98896243	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553343630	chr3:98896262-98896263	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs577844523	chr3:98896268-98896269	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs73859823	chr3:98896307-98896308	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546969423	chr3:98896335-98896336	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs184777269	chr3:98896338-98896339	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs574113918	chr3:98896346-98896347	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs2682411	chr3:98896355-98896356	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189234769	chr3:98896362-98896363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180966675	chr3:98896480-98896481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544425349	chr3:98896597-98896598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185909993	chr3:98896663-98896664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554465402	chr3:98896708-98896709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73147972	chr3:98896768-98896769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190024633	chr3:98896788-98896789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560211947	chr3:98896811-98896812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1818726	chr3:98896836-98896837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72936861	chr3:98896873-98896874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs1818727	chr3:98896890-98896891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569831463	chr3:98896892-98896893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531226775	chr3:98896901-98896902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144972756	chr3:98896962-98896963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181279463	chr3:98897017-98897018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531715087	chr3:98897025-98897026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567712623	chr3:98897052-98897053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530218061	chr3:98897087-98897088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9868619	chr3:98897094-98897095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537235173	chr3:98897142-98897143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13063402	chr3:98897157-98897158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:4 , 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

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