Variant report

Variant	esv3414968
Chromosome Location	chr15:75007299-75009547
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	chr15:75008936..75010510-chr15:75042594..75044929,2	K562	blood:
4	chr15:75008827..75010524-chr15:75011115..75014205,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182570369	chr15:75007315-75007316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185641228	chr15:75007324-75007325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146447679	chr15:75007440-75007441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545525784	chr15:75007471-75007472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56249911	chr15:75007477-75007478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535344219	chr15:75007480-75007481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58328001	chr15:75007500-75007501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71137399	chr15:75007502-75007503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184268972	chr15:75007507-75007508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549045077	chr15:75007512-75007513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560858208	chr15:75007513-75007514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35570076	chr15:75007554-75007555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35857345	chr15:75007649-75007650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567654303	chr15:75007659-75007660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538280817	chr15:75007672-75007673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2472308	chr15:75007761-75007762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36098749	chr15:75007782-75007783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2472309	chr15:75007800-75007801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571928650	chr15:75007822-75007823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201993592	chr15:75007897-75007898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200468480	chr15:75007900-75007901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111552336	chr15:75007911-75007912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539356648	chr15:75007915-75007916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555810819	chr15:75008010-75008011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548137634	chr15:75008070-75008071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182960759	chr15:75008091-75008092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371023422	chr15:75008098-75008099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188718042	chr15:75008136-75008137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199995958	chr15:75008189-75008190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193270080	chr15:75008329-75008330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576465971	chr15:75008333-75008334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537415405	chr15:75008334-75008335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558546522	chr15:75008358-75008359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112370926	chr15:75008427-75008428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375223044	chr15:75008485-75008486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182932961	chr15:75008570-75008571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182497120	chr15:75008586-75008587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569136093	chr15:75008588-75008589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114800629	chr15:75008606-75008607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368090223	chr15:75008619-75008620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572192952	chr15:75008643-75008644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542503056	chr15:75008665-75008666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560990112	chr15:75008700-75008701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531315814	chr15:75008753-75008754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371618862	chr15:75008864-75008865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74607204	chr15:75008882-75008883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187522104	chr15:75008902-75008903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532179782	chr15:75008917-75008918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548101350	chr15:75008948-75008949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75705772	chr15:75009033-75009034	Enhancers 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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75003000-75008600	Weak transcription	HepG2	liver
2	chr15:75003200-75012600	Weak transcription	Lung	lung
3	chr15:75005400-75008600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr15:75005600-75008400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr15:75005600-75008600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr15:75008400-75009200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr15:75008600-75009200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr15:75008600-75009400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr15:75008600-75009400	Enhancers	HepG2	liver
10	chr15:75009400-75015200	Weak transcription	HepG2	liver

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