Variant report

Variant	nsv974619
Chromosome Location	chr15:92824911-92831970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:92828275-92828329	LNCaP	prostate:	n/a	n/a
2	CTCF	chr15:92825280-92825430	GM12864	blood:	n/a	chr15:92825306-92825319
3	POLR2A	chr15:92829198-92829349	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:92829179-92829358	GM12878	blood:	n/a	n/a
5	RAD21	chr15:92828926-92829184	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO3A1-3	chr15:92824714-92825314	NONHSAT048517

Variant related genes	Relation type
NPM1P5	TF binding region

Extended variants
information (count: 302 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:302 , 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	rs11074058	chr15:92824927-92824928	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181072125	chr15:92824935-92824936	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs569676709	chr15:92824942-92824943	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs17599020	chr15:92824974-92824975	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549293186	chr15:92825010-92825011	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs566016514	chr15:92825015-92825016	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs537778608	chr15:92825031-92825032	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs555770286	chr15:92825048-92825049	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs373873982	chr15:92825064-92825065	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs578011719	chr15:92825098-92825099	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs537563774	chr15:92825151-92825152	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs557027435	chr15:92825153-92825154	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs573695901	chr15:92825172-92825173	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs561495918	chr15:92825177-92825178	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs186427417	chr15:92825193-92825194	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs190383392	chr15:92825241-92825242	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs376909702	chr15:92825257-92825258	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs545245734	chr15:92825259-92825260	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs565492487	chr15:92825293-92825294	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs369188364	chr15:92825313-92825314	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs112952323	chr15:92825360-92825361	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs73533682	chr15:92825370-92825371	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553104849	chr15:92825402-92825403	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563418260	chr15:92825434-92825435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528883508	chr15:92825444-92825445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549033634	chr15:92825445-92825446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112036938	chr15:92825454-92825455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534939102	chr15:92825455-92825456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368990430	chr15:92825478-92825479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182730801	chr15:92825492-92825493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536895605	chr15:92825493-92825494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139701282	chr15:92825496-92825497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187365980	chr15:92825511-92825512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536226989	chr15:92825546-92825547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190672929	chr15:92825551-92825552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577725166	chr15:92825668-92825669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115490554	chr15:92825675-92825676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370912413	chr15:92825729-92825730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117396314	chr15:92825734-92825735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2387686	chr15:92825832-92825833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377054900	chr15:92825837-92825838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144603582	chr15:92825852-92825853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544516991	chr15:92825868-92825869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563353940	chr15:92825870-92825871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529026390	chr15:92825877-92825878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542616414	chr15:92825896-92825897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184013819	chr15:92825921-92825922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371528515	chr15:92825933-92825934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557345665	chr15:92825944-92825945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551650695	chr15:92825972-92825973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92824200-92827200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:92824800-92825400	Enhancers	Liver	Liver
3	chr15:92825400-92826800	Weak transcription	Liver	Liver
4	chr15:92826800-92827600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr15:92826800-92827800	Enhancers	Liver	Liver
6	chr15:92826800-92827800	Enhancers	Fetal Heart	heart
7	chr15:92827000-92827400	Enhancers	Fetal Lung	lung
8	chr15:92827000-92827800	Enhancers	Stomach Mucosa	stomach
9	chr15:92827200-92827600	Enhancers	Rectal Smooth Muscle	rectum
10	chr15:92827800-92832400	Weak transcription	Stomach Mucosa	stomach
11	chr15:92829400-92829800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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