Variant report

Variant	esv3524315
Chromosome Location	chr4:99176815-99177249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99169147..99171084-chr4:99176723..99180239,3	K562	blood:
2	chr4:99168522..99170647-chr4:99175545..99178223,2	K562	blood:
3	chr4:99173401..99175142-chr4:99176949..99179028,2	MCF-7	breast:
4	chr4:99177008..99180462-chr4:99180782..99182422,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192313159	chr4:99176857-99176858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545645598	chr4:99176875-99176876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148319961	chr4:99176876-99176877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555030431	chr4:99176886-99176887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531171738	chr4:99176888-99176889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549734033	chr4:99176895-99176896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141282307	chr4:99176929-99176930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59218679	chr4:99176933-99176934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547188292	chr4:99176943-99176944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566221495	chr4:99176963-99176964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369058972	chr4:99176968-99176969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558457456	chr4:99177024-99177025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540192364	chr4:99177072-99177073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537770707	chr4:99177167-99177168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555728964	chr4:99177168-99177169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367598792	chr4:99177174-99177175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10015755	chr4:99177175-99177176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184898901	chr4:99177221-99177222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	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
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99164400-99180600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:99171600-99181000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:99174800-99180800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:99175000-99180400	Weak transcription	Liver	Liver
5	chr4:99175600-99180600	Weak transcription	HepG2	liver
6	chr4:99175800-99180600	Weak transcription	Brain Anterior Caudate	brain
7	chr4:99176600-99180600	Weak transcription	Fetal Brain Male	brain

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