Variant report

Variant	esv2475081
Chromosome Location	chr5:52205531-52209310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 273 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538905812	chr5:52205565-52205566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554222016	chr5:52205567-52205568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs55905783	chr5:52205601-52205602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs536745092	chr5:52205737-52205738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555144751	chr5:52205742-52205743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576453809	chr5:52205764-52205765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544031491	chr5:52205788-52205789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558864869	chr5:52205789-52205790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3733882	chr5:52205790-52205791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541293136	chr5:52205896-52205897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370606330	chr5:52205908-52205909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201715258	chr5:52205915-52205916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527240265	chr5:52205924-52205925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542206196	chr5:52205949-52205950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201879718	chr5:52205963-52205964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531283143	chr5:52205973-52205974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549969261	chr5:52205989-52205990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60770849	chr5:52205991-52205992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571318435	chr5:52206014-52206015	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200679010	chr5:52206050-52206051	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532455531	chr5:52206065-52206066	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547662670	chr5:52206083-52206084	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565973897	chr5:52206093-52206094	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374431106	chr5:52206137-52206138	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536688369	chr5:52206169-52206170	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377090654	chr5:52206174-52206175	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs144742981	chr5:52206211-52206212	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs199655323	chr5:52206242-52206243	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs201034305	chr5:52206244-52206245	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs570162396	chr5:52206280-52206281	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs374192076	chr5:52206345-52206346	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs377625376	chr5:52206408-52206409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183643168	chr5:52206410-52206411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577327325	chr5:52206412-52206413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541329297	chr5:52206418-52206419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553299117	chr5:52206422-52206423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201038885	chr5:52206425-52206426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574776649	chr5:52206442-52206443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569027320	chr5:52206455-52206456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144489063	chr5:52206464-52206465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146619021	chr5:52206476-52206477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189529963	chr5:52206478-52206479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576097117	chr5:52206494-52206495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112784103	chr5:52206504-52206505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140128990	chr5:52206510-52206511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182278256	chr5:52206514-52206515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547602663	chr5:52206526-52206527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186908866	chr5:52206535-52206536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529998184	chr5:52206566-52206567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548935238	chr5:52206576-52206577	Weak transcription	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:52166800-52214800	Weak transcription	Spleen	Spleen
3	chr5:52174600-52210600	Weak transcription	Hela-S3	cervix
4	chr5:52181200-52214000	Weak transcription	Placenta	Placenta
5	chr5:52188800-52218200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:52189200-52211000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:52189800-52210800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:52191600-52218400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:52192200-52211000	Weak transcription	Right Ventricle	heart
11	chr5:52192200-52218400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:52192200-52219600	Weak transcription	Fetal Stomach	stomach
13	chr5:52192200-52220000	Weak transcription	Lung	lung
14	chr5:52193000-52211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:52193200-52205600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:52193200-52218400	Weak transcription	Fetal Kidney	kidney
17	chr5:52193600-52206000	Weak transcription	NHDF-Ad	bronchial
18	chr5:52193600-52211000	Weak transcription	NHLF	lung
19	chr5:52195200-52206000	Weak transcription	Left Ventricle	heart
20	chr5:52195200-52218400	Weak transcription	Fetal Intestine Large	intestine
21	chr5:52195200-52219000	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:52197400-52211000	Weak transcription	Fetal Lung	lung
23	chr5:52198400-52210600	Weak transcription	Primary T cells from cord blood	blood
24	chr5:52198400-52213600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:52198400-52218200	Weak transcription	Aorta	Aorta
26	chr5:52199800-52210800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:52200200-52213600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:52202200-52252200	Weak transcription	Small Intestine	intestine
29	chr5:52203000-52210600	Weak transcription	Liver	Liver
30	chr5:52203200-52205800	Weak transcription	Fetal Heart	heart
31	chr5:52203400-52211800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:52203600-52206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:52204000-52210600	Weak transcription	Dnd41	blood
34	chr5:52204400-52206400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:52204800-52206400	Enhancers	Adipose Nuclei	Adipose
36	chr5:52205000-52206000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:52205200-52206400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:52205200-52206400	Enhancers	Rectal Smooth Muscle	rectum
39	chr5:52205200-52210600	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:52205400-52206200	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr5:52205600-52206000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:52205800-52206200	Enhancers	Brain Hippocampus Middle	brain
43	chr5:52205800-52206200	Enhancers	Fetal Heart	heart
44	chr5:52206000-52206200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:52206000-52206200	ZNF genes & repeats	Left Ventricle	heart
46	chr5:52206000-52206200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:52206000-52206400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:52206000-52206400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr5:52206200-52210600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:52206200-52214800	Weak transcription	Left Ventricle	heart

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