Variant report

Variant	nsv1009516
Chromosome Location	chr4:55548449-55560839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:55549683..55550510-chr4:55831004..55831737,2	MCF-7	breast:
2	chr4:55551469..55552431-chr4:55706923..55707730,2	MCF-7	breast:
3	chr4:55549515..55550376-chr4:55826801..55828173,8	MCF-7	breast:
4	chr4:55549430..55550445-chr4:55706754..55707711,7	MCF-7	breast:
5	chr4:55549261..55550394-chr4:55706621..55707808,6	MCF-7	breast:

Extended variants
information (count: 455 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183542147	chr4:55548455-55548456	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148527950	chr4:55548465-55548466	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2855772	chr4:55548475-55548476	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142830957	chr4:55548551-55548552	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548611998	chr4:55548567-55548568	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565525636	chr4:55548585-55548586	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549648429	chr4:55548592-55548593	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368264394	chr4:55548602-55548603	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535358722	chr4:55548608-55548609	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369930872	chr4:55548618-55548619	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567189194	chr4:55548654-55548655	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2703465	chr4:55548752-55548753	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553105592	chr4:55548758-55548759	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2855773	chr4:55548847-55548848	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537257993	chr4:55548895-55548896	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139702771	chr4:55548917-55548918	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200532879	chr4:55548921-55548922	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6852724	chr4:55548922-55548923	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115544475	chr4:55548923-55548924	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111518580	chr4:55548935-55548936	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187939513	chr4:55548978-55548979	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529416527	chr4:55549008-55549009	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573133342	chr4:55549020-55549021	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545356921	chr4:55549021-55549022	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192370229	chr4:55549038-55549039	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533210252	chr4:55549048-55549049	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535462716	chr4:55549069-55549070	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543262918	chr4:55549118-55549119	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2537867	chr4:55549124-55549125	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182376594	chr4:55549207-55549208	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570752889	chr4:55549209-55549210	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187494181	chr4:55549213-55549214	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139851952	chr4:55549235-55549236	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565741639	chr4:55549253-55549254	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376649254	chr4:55549263-55549264	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2855774	chr4:55549352-55549353	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551317106	chr4:55549449-55549450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544082937	chr4:55549471-55549472	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73818382	chr4:55549509-55549510	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554810080	chr4:55549529-55549530	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117416689	chr4:55549538-55549539	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567843456	chr4:55549541-55549542	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375023927	chr4:55549560-55549561	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143535033	chr4:55549584-55549585	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367995470	chr4:55549594-55549595	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553524160	chr4:55549632-55549633	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71662294	chr4:55549648-55549649	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151220216	chr4:55549649-55549650	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34219785	chr4:55549669-55549670	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545079227	chr4:55549712-55549713	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Cancer	22183965	CNVD
Melanoma	18980976	CNVD
Rhabdomyosarcoma	20807811	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55537600-55554000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:55539200-55549800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:55542600-55550600	Weak transcription	Lung	lung
4	chr4:55543400-55550800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:55543600-55551600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:55543800-55549400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:55545600-55549200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:55545600-55549200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:55545600-55549600	Weak transcription	Fetal Thymus	thymus
10	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:55545800-55562000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:55546200-55549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:55546400-55548800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:55546800-55551000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:55546800-55558000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:55548000-55561600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:55548600-55549400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:55548800-55550000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:55549000-55555200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:55549200-55550400	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:55549200-55550400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:55549200-55559200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:55549400-55549600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:55549400-55549800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:55549400-55551200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr4:55549400-55551400	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:55549400-55551400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:55549400-55552000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:55549600-55550600	Enhancers	Primary B cells from cord blood	blood
30	chr4:55549600-55550800	Enhancers	Fetal Thymus	thymus
31	chr4:55549600-55551000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:55549600-55551200	Enhancers	Primary T cells from cord blood	blood
33	chr4:55549800-55550400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:55549800-55551000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr4:55549800-55551200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr4:55549800-55551400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr4:55549800-55551800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:55550000-55550400	Enhancers	Spleen	Spleen
39	chr4:55550000-55550600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:55550000-55550800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:55550000-55551200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr4:55550000-55551400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:55550000-55552200	Enhancers	Brain Anterior Caudate	brain
44	chr4:55550200-55551400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr4:55550400-55551000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:55550400-55552000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr4:55550400-55553400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr4:55550600-55551000	Enhancers	Lung	lung
49	chr4:55550600-55551000	Enhancers	Spleen	Spleen
50	chr4:55550600-55552800	Weak transcription	Primary B cells from cord blood	blood

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