Variant report

Variant	nsv525041
Chromosome Location	chr15:55068209-55136755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:
2	chr15:55098177..55100063-chr15:55487437..55488979,2	MCF-7	breast:
3	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:
4	chr15:55108183..55110175-chr15:55112199..55114608,2	K562	blood:
5	chr15:55095085..55095585-chr3:11761302..11762189,2	MCF-7	breast:
6	chr15:55062888..55065533-chr15:55066470..55069394,2	K562	blood:
7	chr15:55108183..55110175-chr15:55112199..55114608,2	K562	blood:

Variant related genes	Relation type
ENSG00000137876	chromatin interactions
ENSG00000144560	chromatin interactions

Extended variants
information (count: 2247 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2247 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12906539	chr15:55068209-55068210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575447304	chr15:55068222-55068223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181674882	chr15:55068260-55068261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375981895	chr15:55068321-55068322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537669154	chr15:55068324-55068325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368089326	chr15:55068397-55068398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557496598	chr15:55068414-55068415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577528046	chr15:55068448-55068449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs36067227	chr15:55068454-55068455	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556647665	chr15:55068475-55068476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185570820	chr15:55068488-55068489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573595934	chr15:55068530-55068531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542592994	chr15:55068538-55068539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562465262	chr15:55068545-55068546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531401002	chr15:55068630-55068631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79009689	chr15:55068637-55068638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560015229	chr15:55068686-55068687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140090890	chr15:55068695-55068696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191224520	chr15:55068745-55068746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565431225	chr15:55068770-55068771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545595007	chr15:55068821-55068822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527882039	chr15:55068825-55068826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548147017	chr15:55068851-55068852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79054559	chr15:55068877-55068878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180700833	chr15:55068953-55068954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550123522	chr15:55069049-55069050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570069035	chr15:55069066-55069067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148047802	chr15:55069072-55069073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557535350	chr15:55069088-55069089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4427747	chr15:55069130-55069131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533729666	chr15:55069165-55069166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553685886	chr15:55069179-55069180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573858648	chr15:55069194-55069195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542272283	chr15:55069212-55069213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76269371	chr15:55069226-55069227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141743822	chr15:55069244-55069245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545169739	chr15:55069266-55069267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564961819	chr15:55069275-55069276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150555237	chr15:55069283-55069284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186146412	chr15:55069294-55069295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561447832	chr15:55069304-55069305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138539848	chr15:55069312-55069313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561904555	chr15:55069342-55069343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1846922	chr15:55069363-55069364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373174895	chr15:55069374-55069375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377164773	chr15:55069417-55069418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532400406	chr15:55069463-55069464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552294261	chr15:55069479-55069480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111435236	chr15:55069507-55069508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565821614	chr15:55069541-55069542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55065000-55070200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr15:55068400-55068600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr15:55070400-55070600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr15:55079600-55082400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:55079800-55082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:55080200-55081600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:55081400-55082000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr15:55081600-55082000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr15:55081600-55082000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr15:55081600-55082400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr15:55082000-55082800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:55082400-55082600	Active TSS	Fetal Heart	heart
13	chr15:55082600-55090400	Weak transcription	Fetal Heart	heart
14	chr15:55084600-55085000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr15:55084600-55085000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:55084600-55085200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr15:55089600-55090800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:55089800-55090200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:55090200-55095600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:55093000-55095800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:55093200-55093800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:55093400-55093600	Enhancers	Primary hematopoietic stem cells	blood
23	chr15:55093400-55093600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr15:55093600-55094200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:55093800-55094200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:55093800-55095000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:55094200-55096800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:55094200-55097200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr15:55094800-55095400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr15:55094800-55096600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr15:55095000-55097200	Enhancers	Primary hematopoietic stem cells	blood
32	chr15:55095200-55096200	Enhancers	Hela-S3	cervix
33	chr15:55095400-55096000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr15:55095600-55096000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:55095600-55096400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr15:55095800-55096000	Enhancers	Aorta	Aorta
37	chr15:55095800-55096200	Enhancers	A549	lung
38	chr15:55095800-55096600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:55095800-55096600	Enhancers	GM12878-XiMat	blood
40	chr15:55096000-55096600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr15:55096000-55100200	Weak transcription	Aorta	Aorta
42	chr15:55096600-55097000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:55096800-55101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:55097000-55102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:55097200-55105800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:55100200-55100400	Enhancers	Aorta	Aorta
47	chr15:55100400-55106800	Weak transcription	Aorta	Aorta
48	chr15:55101600-55102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:55102000-55102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:55105800-55107200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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