Variant report

Variant	nsv1057352
Chromosome Location	chr17:15038113-15052051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15030801..15032445-chr17:15040357..15042858,2	K562	blood:
2	chr17:15034854..15037130-chr17:15046281..15047944,2	K562	blood:
3	chr17:15050928..15053562-chr17:15069827..15072655,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8067487	chr17:15038113-15038114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552232784	chr17:15038153-15038154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559254010	chr17:15038154-15038155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55663147	chr17:15038161-15038162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554089546	chr17:15038181-15038182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374574812	chr17:15038259-15038260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146075823	chr17:15038311-15038312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568182468	chr17:15038352-15038353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537171300	chr17:15038357-15038358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551136675	chr17:15038390-15038391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577404065	chr17:15038395-15038396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570996949	chr17:15038410-15038411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540124264	chr17:15038454-15038455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7210108	chr17:15038568-15038569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544759427	chr17:15038572-15038573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370761692	chr17:15038593-15038594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10605056	chr17:15038605-15038606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62072213	chr17:15038608-15038609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369915724	chr17:15038609-15038610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575268508	chr17:15038622-15038623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28648771	chr17:15038629-15038630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113278748	chr17:15038675-15038676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113525434	chr17:15038683-15038684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375378558	chr17:15038695-15038696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184071625	chr17:15038701-15038702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11652360	chr17:15038712-15038713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576965477	chr17:15038719-15038720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546036560	chr17:15038734-15038735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559698171	chr17:15038738-15038739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7210597	chr17:15038753-15038754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541823595	chr17:15038756-15038757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370991508	chr17:15038768-15038769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187012997	chr17:15038808-15038809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574348736	chr17:15038844-15038845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375252744	chr17:15038875-15038876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11652470	chr17:15038890-15038891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9906655	chr17:15038921-15038922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555420252	chr17:15038932-15038933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373975659	chr17:15038941-15038942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191095077	chr17:15038990-15038991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114053139	chr17:15039027-15039028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116418946	chr17:15039030-15039031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535776733	chr17:15039060-15039061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11651331	chr17:15039067-15039068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568953381	chr17:15039084-15039085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145401434	chr17:15039148-15039149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148718110	chr17:15039150-15039151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182461763	chr17:15039158-15039159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115134073	chr17:15039184-15039185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75402205	chr17:15039185-15039186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Autism	18522746	CNVD
Epilepsy	21635232	CNVD
Autism	22543975	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15036400-15039000	Enhancers	K562	blood
2	chr17:15039000-15039600	Weak transcription	K562	blood
3	chr17:15039600-15039800	Enhancers	K562	blood
4	chr17:15048600-15049200	Enhancers	Fetal Stomach	stomach
5	chr17:15050200-15050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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