Variant report

Variant	esv3513709
Chromosome Location	chr10:53827668-53828001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567994105	chr10:53827678-53827679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550362579	chr10:53827687-53827688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570372422	chr10:53827689-53827690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386743699	chr10:53827692-53827693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10824013	chr10:53827693-53827694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190749091	chr10:53827735-53827736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535001612	chr10:53827746-53827747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111827624	chr10:53827748-53827749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557857628	chr10:53827780-53827781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568433660	chr10:53827785-53827786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374930424	chr10:53827788-53827789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12248881	chr10:53827869-53827870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539259454	chr10:53827887-53827888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555895188	chr10:53827888-53827889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567319480	chr10:53827911-53827912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576183956	chr10:53827957-53827958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12765431	chr10:53827977-53827978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12765433	chr10:53827981-53827982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71032621	chr10:53827987-53827988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53814400-53842800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:53817400-53830000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:53821000-53828600	Weak transcription	Lung	lung
4	chr10:53824000-53838200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:53824200-53830200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:53824200-53835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:53824400-53846200	Weak transcription	Aorta	Aorta
8	chr10:53824800-53831000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:53824800-53833000	Weak transcription	Psoas Muscle	Psoas
10	chr10:53825200-53830600	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links