Variant report

Variant	esv3469187
Chromosome Location	chr5:44794918-44795644
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	chr5:44794554..44800071-chr5:44801416..44804503,5	K562	blood:
2	chr5:44792884..44795395-chr5:44807561..44809929,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112996	chromatin interactions
ENSG00000251141	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 88 )

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	rs369610704	chr5:44794950-44794951	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573924158	chr5:44794964-44794965	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567484795	chr5:44794967-44794968	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191955893	chr5:44794968-44794969	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs77668488	chr5:44794978-44794979	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149645148	chr5:44794996-44794997	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376971666	chr5:44795000-44795001	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370208596	chr5:44795005-44795006	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564929181	chr5:44795038-44795039	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574971537	chr5:44795144-44795145	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186605495	chr5:44795256-44795257	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79444605	chr5:44795333-44795334	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141575644	chr5:44795445-44795446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377621958	chr5:44795496-44795497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7735466	chr5:44795551-44795552	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143041898	chr5:44795563-44795564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547221419	chr5:44795606-44795607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370905349	chr5:44795636-44795637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35009893	chr5:44795637-44795638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398108889	chr5:44795643-44795644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44785800-44795600	Weak transcription	Brain Angular Gyrus	brain
2	chr5:44790800-44795000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:44791400-44798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:44793400-44796800	ZNF genes & repeats	Hela-S3	cervix
5	chr5:44793600-44795600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:44793600-44796800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr5:44794200-44795200	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:44794200-44808600	Weak transcription	Aorta	Aorta
9	chr5:44794400-44796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:44795600-44796200	ZNF genes & repeats	Brain Angular Gyrus	brain
11	chr5:44795600-44798200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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