Variant report

Variant	esv3466093
Chromosome Location	chr4:120244543-120244911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61574855	chr4:120244573-120244574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199908041	chr4:120244574-120244575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55884612	chr4:120244577-120244578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373735748	chr4:120244580-120244581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551456126	chr4:120244581-120244582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376380126	chr4:120244583-120244584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371070337	chr4:120244588-120244589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375114344	chr4:120244591-120244592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368454714	chr4:120244592-120244593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540178512	chr4:120244604-120244605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372310680	chr4:120244605-120244606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190439776	chr4:120244620-120244621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180882068	chr4:120244626-120244627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186236136	chr4:120244629-120244630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56166638	chr4:120244648-120244649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571209051	chr4:120244662-120244663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35917388	chr4:120244663-120244664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs181297399	chr4:120244685-120244686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543587062	chr4:120244698-120244699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567881780	chr4:120244719-120244720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112016690	chr4:120244724-120244725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59036484	chr4:120244749-120244750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556936836	chr4:120244781-120244782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2389746	chr4:120244850-120244851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202156486	chr4:120244856-120244857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376332368	chr4:120244872-120244873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369906708	chr4:120244886-120244887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141105010	chr4:120244893-120244894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71627784	chr4:120244902-120244903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120222000-120251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:120222200-120244600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:120235600-120251000	Weak transcription	Left Ventricle	heart
4	chr4:120243600-120245200	Enhancers	Fetal Intestine Large	intestine
5	chr4:120244000-120245400	Enhancers	Fetal Intestine Small	intestine
6	chr4:120244400-120244800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:120244400-120249800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:120244800-120245200	Enhancers	Rectal Mucosa Donor 31	rectum

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