Variant report

Variant	esv3425124
Chromosome Location	chr4:86617124-86617548
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	chr4:86614998..86617949-chr4:86618338..86620197,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57529011	chr4:86617146-86617147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569366691	chr4:86617150-86617151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563412471	chr4:86617155-86617156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61412902	chr4:86617157-86617158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34332249	chr4:86617185-86617186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375511721	chr4:86617238-86617239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530553181	chr4:86617268-86617269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545761070	chr4:86617272-86617273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564115113	chr4:86617289-86617290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199695523	chr4:86617337-86617338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6531853	chr4:86617367-86617368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372052043	chr4:86617391-86617392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545894806	chr4:86617415-86617416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36032191	chr4:86617461-86617462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72656235	chr4:86617465-86617466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199874884	chr4:86617510-86617511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547323323	chr4:86617529-86617530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86591400-86619400	Weak transcription	Pancreas	Pancrea
2	chr4:86603800-86617800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:86603800-86617800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:86603800-86617800	Weak transcription	NHDF-Ad	bronchial
5	chr4:86604200-86624000	Weak transcription	HSMM	muscle
6	chr4:86604600-86617600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr4:86610200-86617400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:86614400-86618800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:86615000-86624200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:86615000-86624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:86615200-86618600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:86617400-86618200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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