Variant report

Variant	esv3410071
Chromosome Location	chr10:50034968-50035339
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	chr10:50021104..50023943-chr10:50032685..50035174,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78512600	chr10:50034987-50034988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554858007	chr10:50035003-50035004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566770798	chr10:50035025-50035026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73310070	chr10:50035045-50035046	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558510726	chr10:50035107-50035108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183025862	chr10:50035109-50035110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562964744	chr10:50035171-50035172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137874618	chr10:50035184-50035185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557286548	chr10:50035231-50035232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573405447	chr10:50035253-50035254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12248218	chr10:50035284-50035285	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542913662	chr10:50035312-50035313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561291063	chr10:50035314-50035315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149729137	chr10:50035318-50035319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cancer	21183584	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
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50013600-50061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr10:50015200-50063400	Strong transcription	Primary B cells from cord blood	blood
3	chr10:50016200-50063000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr10:50016200-50063000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:50016600-50062400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:50020000-50052000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:50022600-50040400	Weak transcription	Lung	lung
8	chr10:50025000-50062800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr10:50026000-50048200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:50028400-50042000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:50028600-50070200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr10:50029000-50051400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:50029200-50036600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:50029200-50052000	Strong transcription	Primary hematopoietic stem cells	blood
15	chr10:50030000-50035400	Weak transcription	Primary T cells from cord blood	blood
16	chr10:50030200-50036800	Weak transcription	Fetal Thymus	thymus
17	chr10:50030800-50038200	Weak transcription	Spleen	Spleen
18	chr10:50032000-50035600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:50034400-50036800	Strong transcription	GM12878-XiMat	blood

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