Variant report

Variant	nsv966218
Chromosome Location	chr4:127707193-127712088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127708913..127710859-chr4:127711115..127713676,2	K562	blood:
2	chr4:127711334..127714117-chr4:127715657..127719809,4	K562	blood:
3	chr4:127675932..127677470-chr4:127709350..127712116,2	K562	blood:
4	chr4:127708913..127710859-chr4:127711115..127713676,2	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553597285	chr4:127707290-127707291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571761827	chr4:127707305-127707306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545502518	chr4:127707308-127707309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563703490	chr4:127707309-127707310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531357561	chr4:127707361-127707362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543077804	chr4:127707370-127707371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150346351	chr4:127707376-127707377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529598162	chr4:127707386-127707387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113563660	chr4:127707398-127707399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369011128	chr4:127707401-127707402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73848011	chr4:127707402-127707403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs137998773	chr4:127707412-127707413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551923276	chr4:127707414-127707415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530516150	chr4:127707422-127707423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191932660	chr4:127707438-127707439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537431165	chr4:127707442-127707443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555513081	chr4:127707449-127707450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13111309	chr4:127707485-127707486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535364469	chr4:127707666-127707667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553509363	chr4:127707766-127707767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570459592	chr4:127707881-127707882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539594481	chr4:127707883-127707884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545462678	chr4:127707925-127707926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550050995	chr4:127707926-127707927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142455355	chr4:127708005-127708006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76892160	chr4:127708021-127708022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184182677	chr4:127708030-127708031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376995508	chr4:127708038-127708039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186704536	chr4:127708060-127708061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574231058	chr4:127708109-127708110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7695444	chr4:127708122-127708123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74629365	chr4:127708148-127708149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566416633	chr4:127708241-127708242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533589682	chr4:127708259-127708260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17011608	chr4:127708272-127708273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563787813	chr4:127708285-127708286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563028619	chr4:127708292-127708293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535401387	chr4:127708311-127708312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191513864	chr4:127708343-127708344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35902927	chr4:127708351-127708352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567561834	chr4:127708374-127708375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7696279	chr4:127708425-127708426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547310440	chr4:127708460-127708461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200122944	chr4:127708480-127708481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565663632	chr4:127708486-127708487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7696445	chr4:127708488-127708489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543462301	chr4:127708528-127708529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557706636	chr4:127708597-127708598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145950889	chr4:127708598-127708599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182553786	chr4:127708618-127708619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Oral squamous cell carcinoma	17134496	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127698600-127715200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:127706600-127711800	Weak transcription	K562	blood
3	chr4:127706800-127711600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:127711600-127712200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:127711800-127712400	Enhancers	K562	blood

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