Variant report

Variant	nsv1021242
Chromosome Location	chr4:143788460-143801084
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	chr4:143795116..143796880-chr4:143868819..143870461,2	MCF-7	breast:

Extended variants
information (count: 226 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs877032	chr4:143788460-143788461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529170250	chr4:143788482-143788483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7683364	chr4:143788564-143788565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562460703	chr4:143788670-143788671	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183569827	chr4:143788736-143788737	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115347657	chr4:143788740-143788741	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188251582	chr4:143788788-143788789	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534916497	chr4:143788802-143788803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546761606	chr4:143788803-143788804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568428364	chr4:143788807-143788808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7683962	chr4:143788874-143788875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377202791	chr4:143788910-143788911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575638417	chr4:143788975-143788976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2012164	chr4:143789004-143789005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181858733	chr4:143789020-143789021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186419013	chr4:143789120-143789121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192001106	chr4:143789155-143789156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141968082	chr4:143789182-143789183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573989839	chr4:143789203-143789204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537950062	chr4:143789219-143789220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150666321	chr4:143789242-143789243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562631901	chr4:143789250-143789251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532979868	chr4:143789290-143789291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181617843	chr4:143789402-143789403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560214170	chr4:143789464-143789465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186869697	chr4:143789473-143789474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568158006	chr4:143789484-143789485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112892007	chr4:143789524-143789525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191298470	chr4:143789527-143789528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535646644	chr4:143789561-143789562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551294911	chr4:143789588-143789589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569431857	chr4:143789596-143789597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539847431	chr4:143789620-143789621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557834121	chr4:143789623-143789624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553786801	chr4:143789642-143789643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370193878	chr4:143789643-143789644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566982855	chr4:143789712-143789713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534240776	chr4:143789750-143789751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555897797	chr4:143789771-143789772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573922196	chr4:143789774-143789775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35998635	chr4:143789775-143789776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544061322	chr4:143789779-143789780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144886228	chr4:143789789-143789790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577833649	chr4:143789797-143789798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183140694	chr4:143789832-143789833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559852704	chr4:143789850-143789851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71608499	chr4:143789857-143789858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7690525	chr4:143789861-143789862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7691899	chr4:143789879-143789880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186704873	chr4:143789914-143789915	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
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
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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143787800-143788800	Enhancers	Fetal Muscle Leg	muscle
2	chr4:143788600-143788800	ZNF genes & repeats	Aorta	Aorta
3	chr4:143788800-143791200	Weak transcription	Aorta	Aorta
4	chr4:143793800-143794400	Enhancers	Osteobl	bone
5	chr4:143794000-143794400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:143794000-143795000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:143794400-143794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:143794800-143795000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:143795000-143796600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:143796600-143798000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:143797200-143797400	Enhancers	Osteobl	bone

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