Variant report

Variant	esv2330039
Chromosome Location	chr10:50950050-50950053
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	chr10:50949707-50950571	GM19239	blood:	n/a	n/a
2	NR2C2	chr10:50949682-50950638	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:50949593-50950649	HepG2	liver:	n/a	n/a
4	SUZ12	chr10:50949606-50950651	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
OGDHL	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 74 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371624472	chr10:50950050-50950051	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Autism	22543975	CNVD
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50940400-50953400	Weak transcription	Brain Hippocampus Middle	brain
2	chr10:50940600-50966000	Strong transcription	Liver	Liver
3	chr10:50941000-50951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr10:50941200-50965400	Weak transcription	Brain Germinal Matrix	brain
5	chr10:50943000-50956400	Strong transcription	Brain Anterior Caudate	brain
6	chr10:50943200-50969400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:50943400-50956200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:50943800-50956000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:50944000-50969400	Weak transcription	Brain Substantia Nigra	brain
10	chr10:50944400-50952400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:50944800-50951600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr10:50945400-50953000	Weak transcription	Ovary	ovary
13	chr10:50946200-50951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:50946200-50955200	Weak transcription	Fetal Brain Female	brain
15	chr10:50946400-50950200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:50946600-50950200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr10:50947200-50952400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:50947800-50960400	Strong transcription	Brain Angular Gyrus	brain
19	chr10:50948000-50956600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:50948600-50955600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:50948800-50956600	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr10:50949000-50953800	Weak transcription	Gastric	stomach
23	chr10:50949600-50950200	ZNF genes & repeats	Fetal Brain Male	brain
24	chr10:50949600-50950400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr10:50949600-50950400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:50949600-50950400	Weak transcription	Fetal Intestine Small	intestine
27	chr10:50949600-50950600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
28	chr10:50949600-50950600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:50949600-50950600	Strong transcription	Fetal Heart	heart
30	chr10:50949600-50950600	ZNF genes & repeats	Fetal Kidney	kidney
31	chr10:50949600-50956200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr10:50949800-50950800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:50949800-50950800	Genic enhancers	Pancreas	Pancrea
34	chr10:50950000-50950200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:50950000-50951000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:50950000-50954800	Weak transcription	Spleen	Spleen
37	chr10:50950000-50955000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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