Variant report

Variant	esv3436366
Chromosome Location	chr5:99759253-99760301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4703098	chr5:99759256-99759257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530117303	chr5:99759277-99759278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148691341	chr5:99759285-99759286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190778443	chr5:99759286-99759287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560252878	chr5:99759288-99759289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149749067	chr5:99759303-99759304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367761399	chr5:99759412-99759413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72772785	chr5:99759421-99759422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574299248	chr5:99759429-99759430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79921799	chr5:99759433-99759434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531920356	chr5:99759448-99759449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182968661	chr5:99759468-99759469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187144064	chr5:99759469-99759470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79110810	chr5:99759477-99759478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199987227	chr5:99759478-99759479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111350205	chr5:99759479-99759480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201329513	chr5:99759480-99759481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199614142	chr5:99759481-99759482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535182418	chr5:99759787-99759788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553847626	chr5:99759805-99759806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544906694	chr5:99759830-99759831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565511350	chr5:99759954-99759955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539443121	chr5:99760031-99760032	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7719690	chr5:99760058-99760059	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs76785453	chr5:99760070-99760071	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs118039660	chr5:99760077-99760078	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs563203254	chr5:99760156-99760157	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs182927227	chr5:99760158-99760159	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs541932558	chr5:99760271-99760272	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560641083	chr5:99760274-99760275	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187516430	chr5:99760285-99760286	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545784878	chr5:99760291-99760292	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564184482	chr5:99760292-99760293	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99753400-99760000	Weak transcription	Fetal Lung	lung
2	chr5:99753800-99765000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:99759000-99759600	Enhancers	Hela-S3	cervix
4	chr5:99759000-99759600	Enhancers	HUVEC	blood vessel
5	chr5:99759000-99760200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:99759600-99760000	Weak transcription	Hela-S3	cervix
7	chr5:99759600-99760000	Weak transcription	HUVEC	blood vessel
8	chr5:99760000-99760400	Enhancers	Hela-S3	cervix
9	chr5:99760000-99760400	Enhancers	HUVEC	blood vessel
10	chr5:99760000-99761000	ZNF genes & repeats	Fetal Lung	lung
11	chr5:99760000-99761600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr5:99760200-99760600	ZNF genes & repeats	Fetal Kidney	kidney
13	chr5:99760200-99761400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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