Variant report

Variant	nsv516912
Chromosome Location	chr15:54756628-54775229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 327 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:327 , 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	rs4776231	chr15:54756628-54756629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530830203	chr15:54756629-54756630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535303246	chr15:54756639-54756640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183844212	chr15:54756663-54756664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549903305	chr15:54756781-54756782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368303497	chr15:54756801-54756802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187898373	chr15:54756802-54756803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191981970	chr15:54756815-54756816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551951577	chr15:54756818-54756819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565767456	chr15:54756832-54756833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547204590	chr15:54756841-54756842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568536764	chr15:54756848-54756849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554584133	chr15:54756861-54756862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568020098	chr15:54756896-54756897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145330450	chr15:54756904-54756905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557055118	chr15:54756940-54756941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184593916	chr15:54756963-54756964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79680601	chr15:54757002-54757003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553587921	chr15:54757025-54757026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573371770	chr15:54757063-54757064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542478127	chr15:54757070-54757071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116742812	chr15:54757107-54757108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74016625	chr15:54757116-54757117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544193041	chr15:54757117-54757118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564189980	chr15:54757122-54757123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575217763	chr15:54757130-54757131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145124734	chr15:54757135-54757136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149105606	chr15:54757155-54757156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113281032	chr15:54757156-54757157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559465358	chr15:54757184-54757185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528297224	chr15:54757196-54757197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12439419	chr15:54767612-54767613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563673087	chr15:54767621-54767622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202033383	chr15:54767637-54767638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200270581	chr15:54767646-54767647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532406547	chr15:54767662-54767663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201440594	chr15:54767693-54767694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12911011	chr15:54767775-54767776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200969783	chr15:54769253-54769254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202196986	chr15:54769284-54769285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200232894	chr15:54769315-54769316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201012360	chr15:54769321-54769322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202056502	chr15:54769389-54769390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200555949	chr15:54769426-54769427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62024022	chr15:54769525-54769526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28866514	chr15:54769558-54769559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62024023	chr15:54769574-54769575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28752237	chr15:54769586-54769587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62024024	chr15:54769593-54769594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201322706	chr15:54769675-54769676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54754200-54757200	Weak transcription	Fetal Lung	lung
2	chr15:54767600-54767800	Weak transcription	Aorta	Aorta
3	chr15:54769200-54777600	Weak transcription	Aorta	Aorta
4	chr15:54773400-54774200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:54774200-54775000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr15:54774400-54774800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:54774400-54775000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr15:54774600-54775000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:54774600-54775000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr15:54775200-54794000	Weak transcription	Fetal Lung	lung

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