Variant report

Variant	esv3434707
Chromosome Location	chr5:52247217-52247453
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52246465..52248425-chr5:52385773..52388530,2	MCF-7	breast:
2	chr5:52244780..52247572-chr5:52249796..52252128,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575033584	chr5:52247219-52247220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542530165	chr5:52247222-52247223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2193968	chr5:52247233-52247234	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs375688982	chr5:52247256-52247257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531308649	chr5:52247269-52247270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562196621	chr5:52247270-52247271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11748504	chr5:52247276-52247277	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564958993	chr5:52247325-52247326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78012118	chr5:52247387-52247388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376265021	chr5:52247392-52247393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116952832	chr5:52247421-52247422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565728577	chr5:52247433-52247434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529983667	chr5:52247438-52247439	Weak transcription Strong transcription 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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52202200-52252200	Weak transcription	Small Intestine	intestine
2	chr5:52220600-52252000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:52221400-52251800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:52232800-52249800	Weak transcription	Left Ventricle	heart
5	chr5:52238800-52252200	Strong transcription	Liver	Liver
6	chr5:52240000-52249800	Weak transcription	Aorta	Aorta
7	chr5:52240000-52253000	Weak transcription	Right Ventricle	heart
8	chr5:52240000-52253400	Weak transcription	Esophagus	oesophagus
9	chr5:52240000-52253600	Weak transcription	Lung	lung
10	chr5:52240200-52251800	Weak transcription	Fetal Intestine Small	intestine
11	chr5:52240200-52253400	Weak transcription	Spleen	Spleen
12	chr5:52240400-52251800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:52241200-52252000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:52241400-52247600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:52242400-52247600	Enhancers	NHEK	skin
16	chr5:52242600-52247600	Enhancers	HMEC	breast
17	chr5:52243400-52248200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:52243400-52252600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:52244200-52247600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:52244400-52247400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:52244800-52250800	Weak transcription	HepG2	liver
22	chr5:52244800-52253600	Weak transcription	Fetal Stomach	stomach
23	chr5:52245000-52251800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:52245200-52249800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:52245200-52253400	Weak transcription	HSMMtube	muscle
26	chr5:52245400-52251000	Weak transcription	NHDF-Ad	bronchial
27	chr5:52245600-52247800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:52245600-52252600	Weak transcription	Dnd41	blood
29	chr5:52245800-52251600	Weak transcription	Placenta	Placenta
30	chr5:52245800-52253000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:52246000-52254400	Weak transcription	Fetal Kidney	kidney
32	chr5:52246200-52251800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:52246200-52254200	Weak transcription	Fetal Lung	lung
34	chr5:52246400-52249800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:52246600-52249000	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:52246800-52249000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:52246800-52253600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:52247000-52248600	Weak transcription	Adipose Nuclei	Adipose
39	chr5:52247000-52253000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr5:52247400-52249000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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