Variant report

Variant	esv3692841
Chromosome Location	chr4:143795347-143800361
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: 98 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6852412	chr4:143795347-143795348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557037264	chr4:143795365-143795366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569342771	chr4:143795511-143795512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56007153	chr4:143795512-143795513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539895291	chr4:143795538-143795539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558278695	chr4:143795568-143795569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573114191	chr4:143795578-143795579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371879087	chr4:143795579-143795580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186175822	chr4:143795597-143795598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140356474	chr4:143795608-143795609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111803515	chr4:143795612-143795613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144089107	chr4:143795638-143795639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532942135	chr4:143795660-143795661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544747674	chr4:143795676-143795677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146529696	chr4:143795705-143795706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141113027	chr4:143795779-143795780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528686771	chr4:143795818-143795819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112617807	chr4:143795838-143795839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114375180	chr4:143795911-143795912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529520245	chr4:143795930-143795931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550956328	chr4:143795981-143795982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75900165	chr4:143796009-143796010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112209681	chr4:143796071-143796072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150681423	chr4:143796117-143796118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539832544	chr4:143796135-143796136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558313275	chr4:143796136-143796137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566944274	chr4:143796222-143796223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533992986	chr4:143796271-143796272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555231510	chr4:143796287-143796288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115600518	chr4:143796292-143796293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537800107	chr4:143796293-143796294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543257579	chr4:143796367-143796368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569642447	chr4:143796417-143796418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78252135	chr4:143796421-143796422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369905335	chr4:143796461-143796462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2874907	chr4:143796487-143796488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530587725	chr4:143796492-143796493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547473427	chr4:143796493-143796494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549101234	chr4:143796525-143796526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559835311	chr4:143796544-143796545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571770358	chr4:143796597-143796598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188537923	chr4:143796610-143796611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563830026	chr4:143796631-143796632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181383450	chr4:143796729-143796730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529487209	chr4:143796731-143796732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185995430	chr4:143796732-143796733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563179778	chr4:143796760-143796761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533387385	chr4:143796799-143796800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532833730	chr4:143796808-143796809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377252254	chr4:143796817-143796818	Enhancers	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143795000-143796600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:143796600-143798000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:143797200-143797400	Enhancers	Osteobl	bone

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