Variant report

Variant	esv3399155
Chromosome Location	chr5:147289018-147289590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:147289340-147289490	Caco-2	colon:	n/a	n/a
2	JUND	chr5:147289432-147289497	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
C5orf46	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576949630	chr5:147289062-147289063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59755025	chr5:147289063-147289064	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557701168	chr5:147289103-147289104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60307992	chr5:147289151-147289152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537122447	chr5:147289172-147289173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371401229	chr5:147289180-147289181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71580460	chr5:147289195-147289196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573871791	chr5:147289199-147289200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536408352	chr5:147289201-147289202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556006984	chr5:147289202-147289203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552898678	chr5:147289210-147289211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111512468	chr5:147289329-147289330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577842993	chr5:147289337-147289338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143008723	chr5:147289339-147289340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78105895	chr5:147289421-147289422	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs80135206	chr5:147289429-147289430	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs114976656	chr5:147289433-147289434	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561003600	chr5:147289439-147289440	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs193008318	chr5:147289453-147289454	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547142167	chr5:147289473-147289474	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs111882220	chr5:147289544-147289545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112347387	chr5:147289545-147289546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538290554	chr5:147289553-147289554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532824730	chr5:147289579-147289580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	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
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147284200-147291000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:147286600-147289400	Weak transcription	Gastric	stomach
3	chr5:147286600-147291800	Weak transcription	Aorta	Aorta
4	chr5:147286800-147289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:147286800-147291000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:147286800-147291000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:147286800-147293000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:147286800-147293000	Weak transcription	HMEC	breast
9	chr5:147289000-147289800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:147289000-147289800	Enhancers	Left Ventricle	heart
11	chr5:147289000-147289800	Enhancers	Pancreas	Pancrea
12	chr5:147289000-147291400	Enhancers	Fetal Heart	heart
13	chr5:147289400-147289600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:147289400-147289800	Enhancers	Gastric	stomach

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