Variant report

Variant	nsv1052623
Chromosome Location	chr15:53265803-53316510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:53263219..53264943-chr15:53268673..53270555,2	K562	blood:
2	chr15:53299361..53301587-chr9:109632566..109635253,2	MCF-7	breast:
3	chr15:53314666..53317363-chr15:53317996..53319589,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC13C-8	chr15:53267931-53268046	NONHSAT043957

Extended variants
information (count: 670 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76221493	chr15:53265854-53265855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572283557	chr15:53265863-53265864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187453060	chr15:53265884-53265885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547619249	chr15:53265918-53265919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569565847	chr15:53265926-53265927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386784016	chr15:53265934-53265935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12324686	chr15:53265935-53265936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146484050	chr15:53266034-53266035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538662780	chr15:53266046-53266047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76996488	chr15:53266091-53266092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572209983	chr15:53266101-53266102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541173573	chr15:53266140-53266141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373538767	chr15:53266169-53266170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554855378	chr15:53266174-53266175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575011522	chr15:53266212-53266213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543736364	chr15:53266294-53266295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191949420	chr15:53266318-53266319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185690891	chr15:53266344-53266345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545033198	chr15:53266351-53266352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377498138	chr15:53266394-53266395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139885041	chr15:53266433-53266434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112842268	chr15:53266453-53266454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560895103	chr15:53266480-53266481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369656033	chr15:53266508-53266509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529920031	chr15:53266516-53266517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188970028	chr15:53266540-53266541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149686944	chr15:53266554-53266555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79612202	chr15:53266558-53266559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552149295	chr15:53266559-53266560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560381598	chr15:53266614-53266615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554924502	chr15:53266661-53266662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371911293	chr15:53266690-53266691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534778692	chr15:53266697-53266698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555074639	chr15:53266706-53266707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574908563	chr15:53266760-53266761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537667757	chr15:53266768-53266769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557331995	chr15:53266769-53266770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192482318	chr15:53266793-53266794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546568854	chr15:53266799-53266800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564867182	chr15:53266847-53266848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551731042	chr15:53266863-53266864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543649946	chr15:53266933-53266934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184512573	chr15:53266935-53266936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77838224	chr15:53266957-53266958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74905499	chr15:53266968-53266969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564983316	chr15:53266975-53266976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145472749	chr15:53266987-53266988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73400027	chr15:53267004-53267005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532263866	chr15:53267005-53267006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552087807	chr15:53267007-53267008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Melanoma	21949216	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53264200-53276800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:53265600-53269000	Enhancers	Liver	Liver
3	chr15:53268000-53269200	Enhancers	Brain Germinal Matrix	brain
4	chr15:53268400-53269000	Enhancers	Fetal Brain Male	brain
5	chr15:53273200-53273400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:53273200-53273800	Enhancers	Dnd41	blood
7	chr15:53276400-53277000	Enhancers	Brain Germinal Matrix	brain
8	chr15:53276400-53277200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr15:53276800-53277000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:53276800-53277200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:53277000-53277200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:53286000-53287000	Enhancers	Liver	Liver
13	chr15:53289200-53289400	Enhancers	Liver	Liver
14	chr15:53292200-53293800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:53292200-53293800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:53303200-53303400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:53303200-53304600	Enhancers	Liver	Liver

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