Variant report

Variant	nsv518261
Chromosome Location	chr15:76274512-76283942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76273577..76275608-chr15:76284248..76285874,2	K562	blood:
2	chr15:76281243..76283320-chr15:76303334..76305949,2	K562	blood:
3	chr15:76234349..76236125-chr15:76276845..76279711,2	K562	blood:
4	chr15:76277087..76279426-chr15:76280170..76283503,3	K562	blood:
5	chr15:76277087..76279426-chr15:76280170..76283503,3	K562	blood:
6	chr15:76273857..76276988-chr15:76280414..76283734,4	K562	blood:
7	chr15:76273857..76276988-chr15:76280414..76283734,4	K562	blood:

Variant related genes	Relation type
ENSG00000169752	chromatin interactions

Extended variants
information (count: 311 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:311 , 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	rs1499063	chr15:76274512-76274513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74867626	chr15:76274516-76274517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530471050	chr15:76274526-76274527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552129344	chr15:76274566-76274567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564062491	chr15:76274570-76274571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374816142	chr15:76274607-76274608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184633618	chr15:76274660-76274661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554082136	chr15:76274788-76274789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79511792	chr15:76274984-76274985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189398533	chr15:76274995-76274996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182000002	chr15:76275039-76275040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73449065	chr15:76275244-76275245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150783521	chr15:76275280-76275281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555836956	chr15:76275373-76275374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558894313	chr15:76275423-76275424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186503131	chr15:76275431-76275432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575751422	chr15:76275494-76275495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553153687	chr15:76275514-76275515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574651918	chr15:76275517-76275518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542010249	chr15:76275518-76275519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138181785	chr15:76275532-76275533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575879970	chr15:76275577-76275578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190496692	chr15:76275583-76275584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78911138	chr15:76275641-76275642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115829138	chr15:76275667-76275668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76115282	chr15:76275673-76275674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181626761	chr15:76275758-76275759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186164529	chr15:76275777-76275778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550733017	chr15:76275784-76275785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367918880	chr15:76275791-76275792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569093562	chr15:76275865-76275866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1391895	chr15:76275906-76275907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2405578	chr15:76275932-76275933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552312317	chr15:76275950-76275951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191585758	chr15:76275978-76275979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534802475	chr15:76276034-76276035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11634028	chr15:76276150-76276151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182514967	chr15:76276186-76276187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535686748	chr15:76276250-76276251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187982455	chr15:76276376-76276377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2133408	chr15:76276380-76276381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78655769	chr15:76276424-76276425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2133409	chr15:76276429-76276430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs572913872	chr15:76276446-76276447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2133410	chr15:76276449-76276450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs561797057	chr15:76276472-76276473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528984906	chr15:76276507-76276508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367687922	chr15:76276522-76276523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544093414	chr15:76276546-76276547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554337427	chr15:76276551-76276552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Intellectual disability	22102821	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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76273800-76274800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:76274000-76290000	Weak transcription	Pancreas	Pancrea
3	chr15:76274800-76275200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:76274800-76275200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr15:76274800-76275400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr15:76275000-76275200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:76275000-76275400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr15:76275000-76275400	Enhancers	Placenta	Placenta
9	chr15:76275400-76277000	Weak transcription	Placenta	Placenta
10	chr15:76276600-76295000	Weak transcription	Hela-S3	cervix
11	chr15:76277000-76277800	Enhancers	Placenta	Placenta
12	chr15:76277200-76277600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:76277800-76279400	Weak transcription	Placenta	Placenta
14	chr15:76279400-76281400	Enhancers	Placenta	Placenta
15	chr15:76279800-76280200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:76280600-76280800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:76280800-76282200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:76281400-76282200	Weak transcription	Placenta	Placenta
19	chr15:76282200-76282800	Enhancers	Placenta	Placenta
20	chr15:76282200-76282800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr15:76282800-76286600	Weak transcription	Placenta	Placenta

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