Variant report

Variant	nsv963533
Chromosome Location	chr3:115585340-115587845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554966860	chr3:115585347-115585348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574207971	chr3:115585360-115585361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188154431	chr3:115585450-115585451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144322547	chr3:115585471-115585472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116093687	chr3:115585472-115585473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545646245	chr3:115585553-115585554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553166261	chr3:115585593-115585594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563737630	chr3:115585605-115585606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192915849	chr3:115585631-115585632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574664642	chr3:115585632-115585633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542994799	chr3:115585633-115585634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376049435	chr3:115585640-115585641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148801035	chr3:115585678-115585679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547666001	chr3:115585785-115585786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559413138	chr3:115585817-115585818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368237094	chr3:115585822-115585823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73858086	chr3:115585827-115585828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532943281	chr3:115585871-115585872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541924908	chr3:115585872-115585873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551180717	chr3:115585877-115585878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530699408	chr3:115585906-115585907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569386840	chr3:115585951-115585952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182802721	chr3:115585971-115585972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548664164	chr3:115586003-115586004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10511349	chr3:115586061-115586062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143885012	chr3:115586081-115586082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186703792	chr3:115586164-115586165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553609384	chr3:115586208-115586209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530854208	chr3:115586236-115586237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375713985	chr3:115586251-115586252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370190720	chr3:115586313-115586314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146795213	chr3:115586317-115586318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575768483	chr3:115586358-115586359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139510271	chr3:115586377-115586378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554808698	chr3:115586411-115586412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374760621	chr3:115586415-115586416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368434434	chr3:115586437-115586438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72953463	chr3:115586462-115586463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372065958	chr3:115586481-115586482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72953465	chr3:115586494-115586495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191166890	chr3:115586538-115586539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142457745	chr3:115586603-115586604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368142481	chr3:115586608-115586609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563154284	chr3:115586618-115586619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79683997	chr3:115586656-115586657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564255360	chr3:115586678-115586679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549059778	chr3:115586691-115586692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151065198	chr3:115586739-115586740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73858088	chr3:115586774-115586775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546299405	chr3:115586806-115586807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115577600-115595000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:115581000-115585400	Enhancers	Fetal Lung	lung
3	chr3:115581800-115585800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:115581800-115591000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:115582400-115590800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:115583200-115586400	Weak transcription	HepG2	liver
7	chr3:115583400-115589200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:115583600-115587000	Weak transcription	Aorta	Aorta
9	chr3:115583800-115585400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:115584000-115591200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:115585000-115585400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:115585200-115585800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:115585400-115586000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:115585400-115596200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:115585600-115585800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:115585800-115586400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:115585800-115590600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:115586000-115586600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:115586400-115587000	Enhancers	HepG2	liver
20	chr3:115586600-115586800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:115586800-115589200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:115587000-115587200	ZNF genes & repeats	Aorta	Aorta
23	chr3:115587200-115589400	Weak transcription	Aorta	Aorta

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