Variant report

Variant	esv3445564
Chromosome Location	chr4:118380404-118382352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:118373648..118376261-chr4:118378262..118380604,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533689438	chr4:118381643-118381644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552156366	chr4:118381652-118381653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143258403	chr4:118381721-118381722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186049186	chr4:118381733-118381734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528186869	chr4:118381741-118381742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548006623	chr4:118381742-118381743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568229878	chr4:118381774-118381775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189249608	chr4:118381788-118381789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552559235	chr4:118381842-118381843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557137871	chr4:118381861-118381862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570363507	chr4:118381891-118381892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539356179	chr4:118381946-118381947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552937453	chr4:118382031-118382032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559797196	chr4:118382033-118382034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17861947	chr4:118382057-118382058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181778652	chr4:118382088-118382089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76308038	chr4:118382133-118382134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544451467	chr4:118382156-118382157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564672981	chr4:118382196-118382197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17865156	chr4:118382198-118382199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112541783	chr4:118382209-118382210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540969518	chr4:118382273-118382274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559368936	chr4:118382323-118382324	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Autism	19246517	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118381600-118382400	Enhancers	Brain Cingulate Gyrus	brain
2	chr4:118381800-118382200	Enhancers	Brain Angular Gyrus	brain
3	chr4:118381800-118382200	Enhancers	Brain Anterior Caudate	brain
4	chr4:118381800-118382400	Enhancers	Brain Substantia Nigra	brain
5	chr4:118381800-118382800	Enhancers	Brain Hippocampus Middle	brain
6	chr4:118381800-118382800	Enhancers	Brain Inferior Temporal Lobe	brain

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