Variant report

Variant	esv3526467
Chromosome Location	chr4:106234759-106235021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562449288	chr4:106234759-106234760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541272163	chr4:106234794-106234795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528862228	chr4:106234799-106234800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111473601	chr4:106234811-106234812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116750479	chr4:106234819-106234820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144307468	chr4:106234830-106234831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11732215	chr4:106234854-106234855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147816299	chr4:106234866-106234867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113277427	chr4:106234869-106234870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549421341	chr4:106234878-106234879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77151618	chr4:106234884-106234885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116400099	chr4:106234885-106234886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199571903	chr4:106234887-106234888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74996611	chr4:106234898-106234899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531687408	chr4:106234916-106234917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60942380	chr4:106234944-106234945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371704781	chr4:106234948-106234949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374934379	chr4:106234949-106234950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60537293	chr4:106234950-106234951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111461131	chr4:106234974-106234975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10516518	chr4:106235012-106235013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs569705790	chr4:106235020-106235021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106234400-106238000	Weak transcription	Left Ventricle	heart
2	chr4:106234400-106238000	Weak transcription	Pancreas	Pancrea
3	chr4:106234400-106266600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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