Variant report

Variant	esv275195
Chromosome Location	chr4:131390367-131399503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5001529	chr4:131390367-131390368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542037231	chr4:131390369-131390370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571740840	chr4:131390438-131390439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191320588	chr4:131390460-131390461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557306929	chr4:131390468-131390469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149777032	chr4:131390510-131390511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530736758	chr4:131390593-131390594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375001826	chr4:131390621-131390622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148621550	chr4:131390647-131390648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556401589	chr4:131390656-131390657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142050846	chr4:131390668-131390669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4320147	chr4:131390681-131390682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4303994	chr4:131390704-131390705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375028399	chr4:131390712-131390713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558064411	chr4:131390743-131390744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4504274	chr4:131390761-131390762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146701814	chr4:131390787-131390788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576510835	chr4:131390791-131390792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544011078	chr4:131390829-131390830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540490026	chr4:131390852-131390853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562495543	chr4:131390869-131390870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529703743	chr4:131390899-131390900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560289291	chr4:131390947-131390948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202063141	chr4:131390950-131390951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561530188	chr4:131390978-131390979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528814671	chr4:131390996-131390997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10020348	chr4:131390997-131390998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs10028653	chr4:131399048-131399049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75005827	chr4:131399051-131399052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529056378	chr4:131399052-131399053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111516019	chr4:131399070-131399071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532914662	chr4:131399090-131399091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530159479	chr4:131399139-131399140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551341778	chr4:131399143-131399144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34935548	chr4:131399208-131399209	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538148467	chr4:131399221-131399222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78562939	chr4:131399232-131399233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550017058	chr4:131399233-131399234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568425981	chr4:131399256-131399257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62318214	chr4:131399376-131399377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554097679	chr4:131399379-131399380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75967942	chr4:131399383-131399384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35657782	chr4:131399389-131399390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558128988	chr4:131399421-131399422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77643039	chr4:131399431-131399432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190549049	chr4:131399447-131399448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561928822	chr4:131399449-131399450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574006426	chr4:131399462-131399463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112422478	chr4:131399477-131399478	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Hepatocellular carcinoma	16750200	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
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131389800-131390800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:131390800-131391000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:131399000-131401000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:131399000-131401000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:131399400-131399800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:131399400-131399800	Enhancers	NHLF	lung
7	chr4:131399400-131400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:131399400-131400000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:131399400-131400800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:131399400-131400800	Enhancers	HMEC	breast

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