Variant report

Variant	esv3401673
Chromosome Location	chr5:104422891-104423433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543692857	chr5:104422911-104422912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554572369	chr5:104422915-104422916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576369651	chr5:104422953-104422954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563280308	chr5:104422969-104422970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139197236	chr5:104422974-104422975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542763920	chr5:104422980-104422981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565569794	chr5:104423028-104423029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577416609	chr5:104423043-104423044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370940610	chr5:104423051-104423052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112541341	chr5:104423065-104423066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185508655	chr5:104423072-104423073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551728330	chr5:104423085-104423086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190811598	chr5:104423104-104423105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10037709	chr5:104423142-104423143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180779393	chr5:104423172-104423173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374267707	chr5:104423222-104423223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567341114	chr5:104423351-104423352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536219058	chr5:104423389-104423390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546954721	chr5:104423427-104423428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566889130	chr5:104423430-104423431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104422600-104423600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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