Variant report

Variant	nsv1053983
Chromosome Location	chr15:54920850-54999183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:
2	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:

Extended variants
information (count: 1009 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1009 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9920150	chr15:54920850-54920851	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28754740	chr15:54920877-54920878	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74014278	chr15:54920894-54920895	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11856308	chr15:54920913-54920914	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369517519	chr15:54920918-54920919	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542135322	chr15:54920920-54920921	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182446154	chr15:54920922-54920923	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531125652	chr15:54920950-54920951	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9920248	chr15:54920952-54920953	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186574441	chr15:54920965-54920966	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34066651	chr15:54921005-54921006	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531232372	chr15:54921008-54921009	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568075089	chr15:54921038-54921039	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554619741	chr15:54921046-54921047	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190427423	chr15:54921050-54921051	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547157010	chr15:54921052-54921053	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565723012	chr15:54921054-54921055	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181170348	chr15:54921075-54921076	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575974498	chr15:54921080-54921081	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147230438	chr15:54921094-54921095	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199859841	chr15:54921126-54921127	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372259086	chr15:54921131-54921132	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555771850	chr15:54921147-54921148	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145695587	chr15:54921149-54921150	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374231589	chr15:54921150-54921151	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371454520	chr15:54921159-54921160	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374177324	chr15:54921168-54921169	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543843860	chr15:54921178-54921179	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568313321	chr15:54921183-54921184	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76323114	chr15:54921194-54921195	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76348219	chr15:54921222-54921223	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140620223	chr15:54921230-54921231	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78659176	chr15:54921233-54921234	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537031502	chr15:54921239-54921240	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs74472608	chr15:54921248-54921249	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576469168	chr15:54921285-54921286	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs539129876	chr15:54921286-54921287	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2947002	chr15:54921349-54921350	Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552972428	chr15:54921373-54921374	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs367618676	chr15:54921374-54921375	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs369674139	chr15:54921377-54921378	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543313848	chr15:54921378-54921379	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs80024889	chr15:54921383-54921384	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185609753	chr15:54921391-54921392	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375741125	chr15:54921392-54921393	Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs2947003	chr15:54921396-54921397	Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371560053	chr15:54921403-54921404	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs386784163	chr15:54921407-54921408	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148923796	chr15:54921413-54921414	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111393281	chr15:54921450-54921451	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54920400-54921400	Strong transcription	Fetal Lung	lung
2	chr15:54920600-54921400	Strong transcription	Aorta	Aorta
3	chr15:54921200-54921600	Active TSS	Gastric	stomach
4	chr15:54921400-54923000	Weak transcription	Fetal Lung	lung
5	chr15:54921400-54925400	Weak transcription	Aorta	Aorta
6	chr15:54927800-54928000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:54933000-54933400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr15:54933000-54933600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:54933000-54933600	Enhancers	Duodenum Mucosa	Duodenum
10	chr15:54933000-54933600	Enhancers	Fetal Intestine Large	intestine
11	chr15:54934000-54934200	Enhancers	Aorta	Aorta
12	chr15:54934200-54938000	Weak transcription	Aorta	Aorta
13	chr15:54941400-54942200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:54951400-54952000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr15:54952000-54952400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:54952400-54952800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:54968000-54968400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:54968600-54973200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:54970600-54970800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:54972400-54974600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr15:54972400-54975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:54972600-54974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:54973200-54973600	Enhancers	Primary hematopoietic stem cells	blood
24	chr15:54973600-54974400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:54973800-54974600	Enhancers	Primary B cells from cord blood	blood
26	chr15:54974400-54975800	Enhancers	Primary hematopoietic stem cells	blood
27	chr15:54974600-54975000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:54975000-54975600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr15:54979200-54979600	Enhancers	Pancreas	Pancrea
30	chr15:54979600-54980000	Active TSS	Pancreas	Pancrea
31	chr15:54979600-54980200	Enhancers	Liver	Liver
32	chr15:54979600-54980400	Active TSS	Duodenum Mucosa	Duodenum
33	chr15:54979600-54980400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr15:54979600-54980400	Active TSS	A549	lung
35	chr15:54979600-54980600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr15:54979800-54980400	Active TSS	Stomach Mucosa	stomach
37	chr15:54980000-54980400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr15:54980000-54980600	Enhancers	Pancreas	Pancrea
39	chr15:54980400-54980600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr15:54980400-54980600	Enhancers	Stomach Mucosa	stomach
41	chr15:54982800-54983400	Enhancers	Brain Germinal Matrix	brain

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