Variant report

Variant	esv3510072
Chromosome Location	chr3:98897912-98903560
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	chr3:98899387-98899480	NONHSAT090838

Extended variants
information (count: 105 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116027438	chr3:98898035-98898036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113298833	chr3:98898046-98898047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532468232	chr3:98898047-98898048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182967649	chr3:98898069-98898070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186550765	chr3:98898085-98898086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575470191	chr3:98898104-98898105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568872571	chr3:98898109-98898110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538162802	chr3:98898113-98898114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191007017	chr3:98898115-98898116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537825141	chr3:98898130-98898131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564673799	chr3:98898156-98898157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568327554	chr3:98898196-98898197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146895366	chr3:98898373-98898374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554003769	chr3:98898406-98898407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369697616	chr3:98898496-98898497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539495506	chr3:98898549-98898550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55970553	chr3:98898550-98898551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183037268	chr3:98898567-98898568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528773299	chr3:98898630-98898631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139334921	chr3:98898679-98898680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73859825	chr3:98898703-98898704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs68096327	chr3:98898769-98898770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34770536	chr3:98898788-98898789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529420714	chr3:98898791-98898792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540472976	chr3:98898798-98898799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560305862	chr3:98898799-98898800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532479808	chr3:98898888-98898889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552206654	chr3:98898924-98898925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187608525	chr3:98899007-98899008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61693078	chr3:98899025-98899026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4928154	chr3:98899033-98899034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371613489	chr3:98899063-98899064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57596515	chr3:98899064-98899065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57276984	chr3:98899066-98899067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376736785	chr3:98899155-98899156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141784591	chr3:98899159-98899160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369790843	chr3:98899226-98899227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374207310	chr3:98899236-98899237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377628782	chr3:98899245-98899246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369329566	chr3:98899246-98899247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373692609	chr3:98899248-98899249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376324850	chr3:98899255-98899256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370400878	chr3:98899260-98899261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373570092	chr3:98899267-98899268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377527190	chr3:98899268-98899269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370954040	chr3:98899269-98899270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374370047	chr3:98899270-98899271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368303108	chr3:98899274-98899275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371753375	chr3:98899275-98899276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374746903	chr3:98899278-98899279	Enhancers	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:5 , 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

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