Variant report

Variant	esv3337748
Chromosome Location	chr4:173574124-173574378
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	chr4:173565287..173567628-chr4:173572131..173574267,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548650114	chr4:173574225-173574226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143530331	chr4:173574230-173574231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148035219	chr4:173574252-173574253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181835797	chr4:173574258-173574259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569577943	chr4:173574265-173574266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561050101	chr4:173574282-173574283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs837209	chr4:173574292-173574293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2100496	chr4:173574299-173574300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147223155	chr4:173574328-173574329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554646406	chr4:173574369-173574370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200836043	chr4:173574375-173574376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173572600-173574200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:173572800-173574200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:173573000-173574200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:173573000-173574200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:173573000-173574200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:173573000-173577200	Weak transcription	Fetal Intestine Large	intestine
7	chr4:173573200-173574400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr4:173573200-173577200	Weak transcription	Fetal Intestine Small	intestine
9	chr4:173573400-173574800	Enhancers	Fetal Brain Male	brain
10	chr4:173573400-173577800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:173574000-173575200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:173574200-173574600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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