Variant report

Variant	nsv984192
Chromosome Location	chr15:54960002-54981498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 395 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76443092	chr15:54968000-54968001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185054454	chr15:54968054-54968055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189863869	chr15:54968057-54968058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148943959	chr15:54968096-54968097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144203395	chr15:54968112-54968113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544380247	chr15:54968130-54968131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563465731	chr15:54968136-54968137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73405751	chr15:54968165-54968166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372245390	chr15:54968227-54968228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182312840	chr15:54968228-54968229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539628955	chr15:54968235-54968236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28506794	chr15:54968248-54968249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376481398	chr15:54968274-54968275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80179943	chr15:54968281-54968282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548169202	chr15:54968372-54968373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568066577	chr15:54968392-54968393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537114155	chr15:54968397-54968398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564453774	chr15:54968606-54968607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117834871	chr15:54968616-54968617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545720849	chr15:54968667-54968668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559598459	chr15:54968702-54968703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11633379	chr15:54968705-54968706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548526204	chr15:54968711-54968712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372721947	chr15:54968720-54968721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561632361	chr15:54968803-54968804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530456675	chr15:54968857-54968858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187317363	chr15:54968885-54968886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192379605	chr15:54968895-54968896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570500180	chr15:54968901-54968902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183296877	chr15:54968902-54968903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76591077	chr15:54968919-54968920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566724959	chr15:54968958-54968959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535718106	chr15:54968969-54968970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187542152	chr15:54969043-54969044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34602868	chr15:54969053-54969054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141128806	chr15:54969077-54969078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570070438	chr15:54969079-54969080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536555916	chr15:54969102-54969103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190058879	chr15:54969129-54969130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537902105	chr15:54969147-54969148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558223132	chr15:54969155-54969156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578003920	chr15:54969184-54969185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59512027	chr15:54969187-54969188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553177235	chr15:54969212-54969213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573088708	chr15:54969221-54969222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542128108	chr15:54969245-54969246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12913904	chr15:54969249-54969250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182818420	chr15:54969250-54969251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186735036	chr15:54969261-54969262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373005393	chr15:54969267-54969268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54968000-54968400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:54968600-54973200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:54970600-54970800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:54972400-54974600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:54972400-54975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:54972600-54974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:54973200-54973600	Enhancers	Primary hematopoietic stem cells	blood
8	chr15:54973600-54974400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:54973800-54974600	Enhancers	Primary B cells from cord blood	blood
10	chr15:54974400-54975800	Enhancers	Primary hematopoietic stem cells	blood
11	chr15:54974600-54975000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:54975000-54975600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr15:54979200-54979600	Enhancers	Pancreas	Pancrea
14	chr15:54979600-54980000	Active TSS	Pancreas	Pancrea
15	chr15:54979600-54980200	Enhancers	Liver	Liver
16	chr15:54979600-54980400	Active TSS	Duodenum Mucosa	Duodenum
17	chr15:54979600-54980400	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr15:54979600-54980400	Active TSS	A549	lung
19	chr15:54979600-54980600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr15:54979800-54980400	Active TSS	Stomach Mucosa	stomach
21	chr15:54980000-54980400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr15:54980000-54980600	Enhancers	Pancreas	Pancrea
23	chr15:54980400-54980600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr15:54980400-54980600	Enhancers	Stomach Mucosa	stomach

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