Variant report

Variant	esv3361615
Chromosome Location	chr5:146705281-146705863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	rs111758121	chr5:146705300-146705301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572985884	chr5:146705316-146705317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11747533	chr5:146705368-146705369	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555215298	chr5:146705384-146705385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60579110	chr5:146705415-146705416	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533885303	chr5:146705442-146705443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544236254	chr5:146705463-146705464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563801991	chr5:146705525-146705526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564035570	chr5:146705599-146705600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577633694	chr5:146705707-146705708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142546321	chr5:146705729-146705730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200809553	chr5:146705743-146705744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75141930	chr5:146705749-146705750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73797621	chr5:146705760-146705761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185671988	chr5:146705776-146705777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542406548	chr5:146705812-146705813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148219978	chr5:146705860-146705861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	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
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146688800-146707200	Weak transcription	Pancreas	Pancrea
2	chr5:146703200-146711800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:146703600-146716400	Weak transcription	Ovary	ovary
4	chr5:146703800-146707200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:146703800-146711400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:146705000-146706000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:146705800-146706400	Enhancers	Pancreatic Islets	Pancreatic Islet

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