Variant report

Variant	esv3352148
Chromosome Location	chr10:50188929-50189087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:50189020-50189170	GM12864	blood:	n/a	n/a
2	CTCF	chr10:50189022-50190020	SK-N-SH	brain:	n/a	chr10:50189549-50189567 chr10:50189552-50189565 chr10:50189551-50189572 chr10:50189550-50189566
3	CTCF	chr10:50189020-50189170	AG04450	lung:	n/a	n/a
4	MAFF	chr10:50188845-50189112	HepG2	liver:	n/a	chr10:50188944-50188962
5	MAFK	chr10:50188827-50189140	HepG2	liver:	n/a	chr10:50188945-50188960 chr10:50188949-50188960 chr10:50188950-50188961 chr10:50188950-50188961
6	MAFK	chr10:50188894-50189125	HepG2	liver:	n/a	chr10:50188945-50188960 chr10:50188949-50188960 chr10:50188950-50188961 chr10:50188950-50188961
7	POLR2A	chr10:50188788-50189423	GM12878	blood:	n/a	n/a
8	RAD21	chr10:50187999-50190296	SK-N-SH	brain:	n/a	chr10:50190269-50190278 chr10:50189632-50189644 chr10:50189555-50189567 chr10:50189550-50189569
9	SMC3	chr10:50189075-50190144	SK-N-SH	brain:	n/a	chr10:50189551-50189565

No.	Distal block	Cell Line	Cell type
1	chr10:50189042..50190060-chr10:50372301..50373296,9	MCF-7	breast:
2	chr10:50189016..50189840-chr10:50369727..50370380,2	MCF-7	breast:
3	chr10:50189004..50189946-chr10:50369694..50370301,2	MCF-7	breast:
4	chr10:49864070..49864811-chr10:50189081..50190023,3	K562	blood:
5	chr10:50183047..50186583-chr10:50187607..50192448,6	K562	blood:
6	chr10:50188936..50190031-chr10:50371953..50373337,3	K562	blood:
7	chr10:50188644..50191222-chr10:50191430..50195593,3	K562	blood:
8	chr10:50189056..50189642-chr10:50626103..50626925,2	K562	blood:

Variant related genes	Relation type
ENSG00000226576	TF binding region
ENSG00000128815	chromatin interactions
ENSG00000128805	chromatin interactions
ENSG00000264800	chromatin interactions
ENSG00000226576	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371843731	chr10:50188938-50188939	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs4838663	chr10:50188965-50188966	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2137909	chr10:50188968-50188969	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556876499	chr10:50188970-50188971	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373104575	chr10:50188973-50188974	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs535847419	chr10:50188982-50188983	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs554102413	chr10:50189071-50189072	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50144600-50196200	Strong transcription	Primary B cells from cord blood	blood
2	chr10:50145000-50193200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:50145400-50193200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:50145800-50193400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:50148000-50193600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:50153600-50193600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:50163400-50189000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr10:50174600-50189400	Weak transcription	Ovary	ovary
9	chr10:50175200-50189400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:50177400-50189400	Weak transcription	Esophagus	oesophagus
11	chr10:50179200-50192200	Weak transcription	Primary T cells from cord blood	blood
12	chr10:50181800-50191200	Weak transcription	Lung	lung
13	chr10:50185400-50192400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr10:50186800-50189200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:50187400-50189800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:50187400-50190000	Weak transcription	Spleen	Spleen
17	chr10:50187800-50192200	Weak transcription	GM12878-XiMat	blood
18	chr10:50188000-50189800	Enhancers	Fetal Stomach	stomach
19	chr10:50188200-50189800	Enhancers	Fetal Lung	lung
20	chr10:50188600-50190400	Enhancers	Fetal Muscle Leg	muscle
21	chr10:50189000-50189400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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