Variant report

Variant	esv4594
Chromosome Location	chr5:151476209-151476450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4958292	chr5:151476222-151476223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374378485	chr5:151476241-151476242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377551602	chr5:151476244-151476245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371029094	chr5:151476245-151476246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375435994	chr5:151476249-151476250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549231318	chr5:151476302-151476303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200261378	chr5:151476363-151476364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369138076	chr5:151476365-151476366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4958293	chr5:151476368-151476369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72492470	chr5:151476390-151476391	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371973143	chr5:151476396-151476397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183955562	chr5:151476432-151476433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Parkinson disease	21829596	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151475200-151476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:151475600-151477000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:151475600-151477400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:151475600-151477800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:151475800-151476600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:151475800-151477200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:151475800-151477200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:151476000-151477200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:151476000-151477200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:151476200-151476600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:151476400-151476800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:151476400-151476800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:151476400-151477200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:151476400-151477400	Enhancers	HUES64 Cell Line	embryonic stem cell

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