Variant report

Variant	esv3404588
Chromosome Location	chr15:75005349-75009147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75008995..75011604-chr15:75018955..75020856,2	K562	blood:
2	chr15:75008663..75010376-chr15:75014450..75017669,3	K562	blood:
3	chr15:75008827..75010524-chr15:75011115..75014205,3	K562	blood:
4	chr15:75008936..75010510-chr15:75042594..75044929,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551053858	chr15:75005372-75005373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376011436	chr15:75005505-75005506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533500549	chr15:75005517-75005518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376154037	chr15:75005525-75005526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534076694	chr15:75005526-75005527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555354559	chr15:75005544-75005545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567826563	chr15:75005556-75005557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201779098	chr15:75005573-75005574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200127731	chr15:75005575-75005576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12915975	chr15:75005625-75005626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532073281	chr15:75005708-75005709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535797132	chr15:75005738-75005739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556604791	chr15:75005760-75005761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537283087	chr15:75005768-75005769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578204066	chr15:75005775-75005776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201341507	chr15:75005776-75005777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545656607	chr15:75005798-75005799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185372611	chr15:75005801-75005802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373408714	chr15:75005810-75005811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111217928	chr15:75005836-75005837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370093444	chr15:75005858-75005859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572575735	chr15:75005893-75005894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564044576	chr15:75005915-75005916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375970667	chr15:75005916-75005917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564511056	chr15:75005940-75005941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543002730	chr15:75005941-75005942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561356890	chr15:75005942-75005943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531636381	chr15:75005948-75005949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190231298	chr15:75005975-75005976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182115666	chr15:75005984-75005985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202183583	chr15:75005992-75005993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202213044	chr15:75006001-75006002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186670141	chr15:75006027-75006028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200391170	chr15:75006040-75006041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569983538	chr15:75006057-75006058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201591978	chr15:75006080-75006081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193216253	chr15:75006125-75006126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183839521	chr15:75006147-75006148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189248349	chr15:75006151-75006152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566192157	chr15:75006172-75006173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192860310	chr15:75006199-75006200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184672287	chr15:75006216-75006217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535880292	chr15:75006273-75006274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188537861	chr15:75006521-75006522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537475491	chr15:75006580-75006581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191848676	chr15:75006679-75006680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183610517	chr15:75006684-75006685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189207066	chr15:75006712-75006713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62650210	chr15:75006729-75006730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187163406	chr15:75006734-75006735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Lung cancer	18438408	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
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75000600-75005600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:75003000-75008600	Weak transcription	HepG2	liver
3	chr15:75003200-75012600	Weak transcription	Lung	lung
4	chr15:75003400-75005600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr15:75004200-75005400	Enhancers	Primary B cells from cord blood	blood
6	chr15:75005200-75005400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr15:75005400-75008600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr15:75005600-75008400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr15:75005600-75008600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:75008400-75009200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:75008600-75009200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr15:75008600-75009400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr15:75008600-75009400	Enhancers	HepG2	liver

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