Variant report

Variant	nsv984056
Chromosome Location	chr15:41455583-41457693
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	chr15:41456615..41459900-chr15:41462571..41464669,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXD1-1	chr15:41455315-41455653	XLOC_011447
2	lnc-EXD1-1	chr15:41455961-41456708	XLOC_011447

Variant related genes	Relation type
MYT1	miRNA target sites
MYOCD	miRNA target sites

Extended variants
information (count: 56 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548781512	chr15:41455610-41455611	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs369001442	chr15:41455621-41455622	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs138061172	chr15:41455622-41455623	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs35689168	chr15:41455651-41455652	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs180822780	chr15:41455657-41455658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537960386	chr15:41455658-41455659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185800094	chr15:41455677-41455678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537705476	chr15:41455680-41455681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539414562	chr15:41455694-41455695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567643809	chr15:41455706-41455707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536685549	chr15:41455713-41455714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553181052	chr15:41455714-41455715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567000896	chr15:41455722-41455723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28538451	chr15:41455769-41455770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs559320853	chr15:41455779-41455780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549171641	chr15:41455780-41455781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28551767	chr15:41455804-41455805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs534992044	chr15:41455811-41455812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140493294	chr15:41455813-41455814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556864033	chr15:41455846-41455847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573284667	chr15:41455859-41455860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542656349	chr15:41455905-41455906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559091733	chr15:41455914-41455915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528151502	chr15:41455916-41455917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367589912	chr15:41455940-41455941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370578724	chr15:41455994-41455995	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs565451459	chr15:41456043-41456044	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs138110289	chr15:41456067-41456068	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368817130	chr15:41456068-41456069	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs199552382	chr15:41456069-41456070	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200901265	chr15:41456070-41456071	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs531157005	chr15:41456187-41456188	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs144445398	chr15:41456238-41456239	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs567998163	chr15:41456266-41456267	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs530037216	chr15:41456281-41456282	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs532361518	chr15:41456283-41456284	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs546926172	chr15:41456288-41456289	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs190326069	chr15:41456290-41456291	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs539085532	chr15:41456300-41456301	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs1051532	chr15:41456346-41456347	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs11852419	chr15:41456374-41456375	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs374074661	chr15:41456403-41456404	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs557904274	chr15:41456412-41456413	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs62617095	chr15:41456421-41456422	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182543456	chr15:41456440-41456441	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs556835753	chr15:41456503-41456504	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs573835446	chr15:41456539-41456540	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs542906344	chr15:41456541-41456542	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs542569160	chr15:41456567-41456568	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs187550055	chr15:41456584-41456585	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41454200-41456200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:41454800-41456400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:41455200-41455600	Enhancers	Fetal Muscle Leg	muscle
4	chr15:41456400-41456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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