Variant report

Variant	esv1712301
Chromosome Location	chr5:112667491-112667492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35279934	chr5:112667491-112667492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397773541	chr5:112667492-112667493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
2	chr5:112657400-112669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112666200-112668000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:112666400-112668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:112666400-112670600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:112666400-112670600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:112666600-112668600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:112666800-112669000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:112666800-112669200	Weak transcription	Primary T cells from cord blood	blood
10	chr5:112666800-112670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:112666800-112678600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:112667000-112667600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:112667000-112667600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:112667000-112669200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr5:112667000-112670000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:112667000-112672400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:112667000-112672800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:112667000-112674000	Weak transcription	Right Atrium	heart
19	chr5:112667000-112681000	Weak transcription	Esophagus	oesophagus
20	chr5:112667200-112667600	Enhancers	Liver	Liver
21	chr5:112667200-112667600	Enhancers	Fetal Muscle Trunk	muscle
22	chr5:112667200-112670600	Weak transcription	Dnd41	blood
23	chr5:112667200-112671400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:112667200-112672000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:112667200-112672400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:112667200-112672400	Weak transcription	NH-A	brain
27	chr5:112667200-112672800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:112667200-112672800	Weak transcription	Fetal Stomach	stomach
29	chr5:112667200-112678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:112667200-112678800	Weak transcription	HMEC	breast
31	chr5:112667200-112680400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:112667200-112680600	Weak transcription	NHEK	skin
33	chr5:112667200-112680800	Weak transcription	Right Ventricle	heart
34	chr5:112667200-112681000	Weak transcription	Pancreas	Pancrea
35	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:112667400-112667800	Weak transcription	Osteobl	bone

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