Variant report

Variant	esv2012478
Chromosome Location	chr4:81302341-81303062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537947150	chr4:81302354-81302355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563875677	chr4:81302368-81302369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150909799	chr4:81302379-81302380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138306285	chr4:81302452-81302453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188617084	chr4:81302462-81302463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202132597	chr4:81302463-81302464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199675017	chr4:81302540-81302541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201828744	chr4:81302541-81302542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200596147	chr4:81302542-81302543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201622330	chr4:81302543-81302544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2969284	chr4:81302628-81302629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200012710	chr4:81302862-81302863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200967587	chr4:81302863-81302864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202228879	chr4:81302864-81302865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200439777	chr4:81302865-81302866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72860705	chr4:81302880-81302881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76811852	chr4:81302895-81302896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192119598	chr4:81302918-81302919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562461974	chr4:81302990-81302991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149616053	chr4:81303019-81303020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535473278	chr4:81303062-81303063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81291000-81310200	Weak transcription	Osteobl	bone
2	chr4:81292400-81306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:81292600-81307000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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