Variant report

Variant	esv3525400
Chromosome Location	chr4:86564261-86564759
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	chr4:86564011..86565733-chr4:86571511..86573715,2	K562	blood:
2	chr4:86562691..86565511-chr4:86569928..86573011,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147804106	chr4:86564281-86564282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577691525	chr4:86564292-86564293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35477084	chr4:86564316-86564317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112038990	chr4:86564323-86564324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151056596	chr4:86564364-86564365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76227113	chr4:86564367-86564368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76955229	chr4:86564370-86564371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13137331	chr4:86564386-86564387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61182606	chr4:86564388-86564389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201972323	chr4:86564389-86564390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561040484	chr4:86564408-86564409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs70948741	chr4:86564413-86564414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559907427	chr4:86564497-86564498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60134716	chr4:86564537-86564538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543347162	chr4:86564542-86564543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59477193	chr4:86564560-86564561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531933951	chr4:86564568-86564569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550432424	chr4:86564608-86564609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567315419	chr4:86564613-86564614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571693678	chr4:86564630-86564631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183155685	chr4:86564702-86564703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547738597	chr4:86564707-86564708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565952445	chr4:86564709-86564710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536291246	chr4:86564710-86564711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12503569	chr4:86564716-86564717	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:74)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86551400-86575200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:86551800-86569600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:86559600-86576600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:86559800-86580200	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:86560000-86565000	Weak transcription	Ovary	ovary
6	chr4:86560000-86565400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:86561800-86582800	Weak transcription	K562	blood
8	chr4:86562400-86579000	Weak transcription	Right Ventricle	heart
9	chr4:86562800-86564400	Enhancers	GM12878-XiMat	blood
10	chr4:86563200-86570200	Weak transcription	Primary B cells from cord blood	blood
11	chr4:86563800-86564400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:86564000-86574400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:86564400-86564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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