Variant report

Variant	esv2399032
Chromosome Location	chr5:52231593-52232317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146032047	chr5:52231596-52231597	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12656098	chr5:52231639-52231640	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554080040	chr5:52231663-52231664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566000051	chr5:52231689-52231690	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533565688	chr5:52231700-52231701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191297079	chr5:52231704-52231705	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74621278	chr5:52231715-52231716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376814920	chr5:52231716-52231717	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145977482	chr5:52231755-52231756	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573664838	chr5:52231772-52231773	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201138670	chr5:52231789-52231790	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373213008	chr5:52231977-52231978	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374932035	chr5:52231981-52231982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369385526	chr5:52231982-52231983	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369337179	chr5:52231987-52231988	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567591440	chr5:52231998-52231999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544334678	chr5:52232100-52232101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555982299	chr5:52232101-52232102	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577795811	chr5:52232102-52232103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545208109	chr5:52232103-52232104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370945210	chr5:52232104-52232105	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572340520	chr5:52232105-52232106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543045543	chr5:52232128-52232129	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116176869	chr5:52232170-52232171	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531596282	chr5:52232175-52232176	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550279086	chr5:52232245-52232246	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534581309	chr5:52232289-52232290	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570056259	chr5:52232306-52232307	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52202200-52252200	Weak transcription	Small Intestine	intestine
2	chr5:52206400-52240800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:52211400-52239400	Weak transcription	Right Ventricle	heart
4	chr5:52211400-52240200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:52211600-52244400	Weak transcription	HepG2	liver
6	chr5:52212200-52237400	Strong transcription	Liver	Liver
7	chr5:52218600-52237000	Weak transcription	Psoas Muscle	Psoas
8	chr5:52218600-52239400	Weak transcription	Ovary	ovary
9	chr5:52218600-52242200	Weak transcription	Fetal Kidney	kidney
10	chr5:52218800-52240800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:52219200-52235200	Weak transcription	NHDF-Ad	bronchial
12	chr5:52219200-52240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:52219200-52240800	Weak transcription	NHLF	lung
14	chr5:52220000-52243000	Weak transcription	Gastric	stomach
15	chr5:52220400-52239400	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:52220600-52232200	Weak transcription	Spleen	Spleen
17	chr5:52220600-52235600	Weak transcription	Fetal Intestine Small	intestine
18	chr5:52220600-52236600	Weak transcription	Lung	lung
19	chr5:52220600-52252000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:52221400-52240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:52221400-52251800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:52223800-52231800	Strong transcription	Colon Smooth Muscle	Colon
23	chr5:52224000-52235200	Weak transcription	Fetal Intestine Large	intestine
24	chr5:52224000-52236800	Weak transcription	Aorta	Aorta
25	chr5:52224000-52239400	Weak transcription	Fetal Stomach	stomach
26	chr5:52224200-52244600	Weak transcription	Primary T cells from cord blood	blood
27	chr5:52225200-52232200	Weak transcription	Left Ventricle	heart
28	chr5:52225200-52239800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:52227000-52240800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:52228400-52232200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:52228400-52235200	Weak transcription	Fetal Lung	lung
32	chr5:52228400-52240800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:52228600-52232200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:52228600-52232200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:52228600-52232200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:52228600-52232400	Weak transcription	Adipose Nuclei	Adipose
37	chr5:52228600-52234600	Weak transcription	Placenta	Placenta
38	chr5:52228600-52235400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:52229000-52246600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:52229200-52232200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:52229200-52236600	Weak transcription	Dnd41	blood
42	chr5:52229600-52232400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:52230800-52231600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:52231200-52232400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:52231600-52245400	Weak transcription	Colonic Mucosa	Colon
46	chr5:52231800-52233400	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:52232200-52232400	Genic enhancers	Spleen	Spleen
48	chr5:52232200-52232800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:52232200-52232800	Genic enhancers	Left Ventricle	heart
50	chr5:52232200-52233200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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