Variant report

Variant	nsv521431
Chromosome Location	chr15:39215988-39221020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566773841	chr15:39220203-39220204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534116018	chr15:39220224-39220225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547105487	chr15:39220251-39220252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28865003	chr15:39220258-39220259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570706309	chr15:39220315-39220316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186259817	chr15:39220334-39220335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556235175	chr15:39220353-39220354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568018709	chr15:39220373-39220374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78276471	chr15:39220377-39220378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535456943	chr15:39220396-39220397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535457853	chr15:39220421-39220422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190677370	chr15:39220423-39220424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571695823	chr15:39220468-39220469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540554880	chr15:39220543-39220544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183222389	chr15:39220544-39220545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143220907	chr15:39220555-39220556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187565088	chr15:39220590-39220591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563019174	chr15:39220714-39220715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs8036109	chr15:39220743-39220744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542292180	chr15:39220761-39220762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs8035861	chr15:39220785-39220786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146728372	chr15:39220787-39220788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565614500	chr15:39220798-39220799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116458255	chr15:39220844-39220845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61118789	chr15:39220850-39220851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544786778	chr15:39220857-39220858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111793459	chr15:39220864-39220865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531538167	chr15:39220922-39220923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549684162	chr15:39220926-39220927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80253787	chr15:39220947-39220948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs398057624	chr15:39220949-39220950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568165394	chr15:39220959-39220960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs8036186	chr15:39221020-39221021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:71)

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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39220200-39221400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr15:39220600-39220800	Enhancers	HSMM	muscle

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