Variant report

Variant	esv2578832
Chromosome Location	chr4:107418912-107420447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 79 )

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	rs569132077	chr4:107419010-107419011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547422112	chr4:107419018-107419019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7696834	chr4:107419089-107419090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28556977	chr4:107419125-107419126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4495119	chr4:107419151-107419152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs568966567	chr4:107419209-107419210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538077700	chr4:107419296-107419297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574611553	chr4:107419331-107419332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79358677	chr4:107419407-107419408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553500491	chr4:107419419-107419420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567104667	chr4:107419466-107419467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34211816	chr4:107419467-107419468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576729644	chr4:107419525-107419526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371785680	chr4:107419539-107419540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375034378	chr4:107419563-107419564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370043888	chr4:107419564-107419565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139070946	chr4:107419565-107419566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113016308	chr4:107419646-107419647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572918757	chr4:107419649-107419650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113856422	chr4:107419655-107419656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372188808	chr4:107419662-107419663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28461969	chr4:107419664-107419665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372796703	chr4:107419668-107419669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112751510	chr4:107419705-107419706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113415727	chr4:107419712-107419713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149197677	chr4:107419772-107419773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576663240	chr4:107419894-107419895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9761992	chr4:107419943-107419944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28718403	chr4:107419961-107419962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553029065	chr4:107419980-107419981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377268849	chr4:107420047-107420048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574527355	chr4:107420088-107420089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547458277	chr4:107420089-107420090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187419882	chr4:107420095-107420096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9760194	chr4:107420105-107420106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371326629	chr4:107420121-107420122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2686287	chr4:107420130-107420131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569178316	chr4:107420178-107420179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556252194	chr4:107420226-107420227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548436539	chr4:107420229-107420230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139093409	chr4:107420235-107420236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541818316	chr4:107420251-107420252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190698466	chr4:107420262-107420263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143585966	chr4:107420274-107420275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73837157	chr4:107420288-107420289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs369607367	chr4:107420297-107420298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183243905	chr4:107420309-107420310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539467846	chr4:107420384-107420385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555865890	chr4:107420402-107420403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107414600-107419200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:107415000-107419200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:107415200-107450200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:107416200-107419200	Enhancers	Osteobl	bone
5	chr4:107416600-107422800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:107417200-107419200	Enhancers	NHDF-Ad	bronchial
7	chr4:107417600-107423200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:107419200-107423400	Weak transcription	Osteobl	bone
9	chr4:107419800-107420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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