Variant report

Variant	esv3443582
Chromosome Location	chr4:129677388-129677682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566659757	chr4:129677407-129677408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112480332	chr4:129677420-129677421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151081882	chr4:129677453-129677454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72918448	chr4:129677494-129677495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7677537	chr4:129677520-129677521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545552088	chr4:129677523-129677524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557505882	chr4:129677539-129677540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201686135	chr4:129677541-129677542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530602475	chr4:129677548-129677549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186557592	chr4:129677572-129677573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80193192	chr4:129677584-129677585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116570942	chr4:129677615-129677616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528825000	chr4:129677621-129677622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540818937	chr4:129677639-129677640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141031045	chr4:129677678-129677679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34885856	chr4:129677681-129677682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129633000-129689600	Weak transcription	Right Atrium	heart
2	chr4:129666600-129692400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:129666800-129679000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:129673000-129678800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:129674600-129679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:129675600-129678800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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