Variant report

Variant	nsv460823
Chromosome Location	chr3:113585633-113595384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1A-2	chr3:113594331-113594714	NONHSAT091246
2	lnc-ATP6V1A-2	chr3:113588354-113588438	NONHSAT091246

Extended variants
information (count: 314 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1025398	chr3:113585633-113585634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139723924	chr3:113585646-113585647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4682503	chr3:113585674-113585675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572265293	chr3:113585681-113585682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542312588	chr3:113585682-113585683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35476705	chr3:113585683-113585684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397776914	chr3:113585693-113585694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540182429	chr3:113585701-113585702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558372414	chr3:113585721-113585722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576743866	chr3:113585739-113585740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1248322	chr3:113585761-113585762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190896721	chr3:113585768-113585769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2465282	chr3:113585778-113585779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542597580	chr3:113585800-113585801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112477642	chr3:113585806-113585807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1248321	chr3:113585824-113585825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75137697	chr3:113585903-113585904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541816790	chr3:113585922-113585923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1248320	chr3:113585941-113585942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1248319	chr3:113585955-113585956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373227018	chr3:113585956-113585957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187582149	chr3:113585962-113585963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4682504	chr3:113586027-113586028	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs137874637	chr3:113586038-113586039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191950372	chr3:113586066-113586067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117283250	chr3:113586153-113586154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368484168	chr3:113586223-113586224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531424722	chr3:113586300-113586301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549972875	chr3:113586301-113586302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150944277	chr3:113586428-113586429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529226807	chr3:113586434-113586435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547765504	chr3:113586435-113586436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34319125	chr3:113586443-113586444	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs183169206	chr3:113586444-113586445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140698453	chr3:113586478-113586479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4682505	chr3:113586487-113586488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs2712364	chr3:113586501-113586502	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543726611	chr3:113586508-113586509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139967043	chr3:113586510-113586511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187378607	chr3:113586603-113586604	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150123658	chr3:113586611-113586612	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553714972	chr3:113586728-113586729	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4682506	chr3:113586776-113586777	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs559093766	chr3:113586789-113586790	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191783643	chr3:113586842-113586843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549741495	chr3:113586880-113586881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146686407	chr3:113587008-113587009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567835391	chr3:113587015-113587016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112145891	chr3:113587018-113587019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371232701	chr3:113587092-113587093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113583000-113598800	Weak transcription	Aorta	Aorta
2	chr3:113586000-113587000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:113586200-113586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:113586200-113587400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:113586200-113587400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:113586200-113587400	Enhancers	NHEK	skin
7	chr3:113586200-113587600	Enhancers	HMEC	breast
8	chr3:113586400-113587400	Enhancers	HUVEC	blood vessel
9	chr3:113586600-113586800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr3:113586600-113587400	Enhancers	Osteobl	bone
11	chr3:113586800-113597800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:113587600-113606000	Weak transcription	Brain Anterior Caudate	brain
13	chr3:113588200-113598200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:113588600-113592000	Weak transcription	Fetal Intestine Small	intestine
15	chr3:113590200-113590400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:113590800-113604200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:113592000-113592600	Enhancers	Fetal Intestine Small	intestine
18	chr3:113592000-113593000	Enhancers	Liver	Liver
19	chr3:113592200-113594200	Enhancers	Fetal Intestine Large	intestine
20	chr3:113592200-113594200	Enhancers	HepG2	liver
21	chr3:113592600-113593000	Weak transcription	Fetal Intestine Small	intestine
22	chr3:113593000-113593200	Enhancers	Fetal Kidney	kidney
23	chr3:113593000-113593600	Flanking Active TSS	Liver	Liver
24	chr3:113593000-113593600	Enhancers	Fetal Intestine Small	intestine
25	chr3:113593200-113603000	Weak transcription	Fetal Kidney	kidney
26	chr3:113593600-113594800	Enhancers	Liver	Liver
27	chr3:113593600-113609400	Weak transcription	Fetal Intestine Small	intestine
28	chr3:113594000-113595200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr3:113594800-113598000	Weak transcription	Liver	Liver

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