Variant report

Variant	esv3340045
Chromosome Location	chr10:44184155-44184491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:44173211..44175882-chr10:44184314..44186858,2	K562	blood:
2	chr10:44173211..44175756-chr10:44184314..44186963,2	K562	blood:
3	chr10:44183379..44187369-chr10:44190252..44193395,4	MCF-7	breast:
4	chr10:44179123..44180704-chr10:44183987..44185665,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561277905	chr10:44184192-44184193	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75569426	chr10:44184230-44184231	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs372579407	chr10:44184241-44184242	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537768409	chr10:44184306-44184307	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540809112	chr10:44184325-44184326	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs57806361	chr10:44184338-44184339	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181788723	chr10:44184383-44184384	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561690981	chr10:44184386-44184387	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs17154128	chr10:44184401-44184402	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569980916	chr10:44184471-44184472	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs11238626	chr10:44184478-44184479	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44174400-44184600	Weak transcription	Lung	lung
2	chr10:44174400-44185000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:44177400-44184600	Weak transcription	Fetal Brain Male	brain
4	chr10:44179600-44184800	Weak transcription	NHDF-Ad	bronchial
5	chr10:44179600-44185000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:44179600-44185000	Weak transcription	Osteobl	bone
7	chr10:44181600-44184600	Weak transcription	Fetal Heart	heart
8	chr10:44181600-44184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:44181600-44185000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:44182000-44184600	Weak transcription	Pancreas	Pancrea
11	chr10:44182000-44184800	Weak transcription	Adipose Nuclei	Adipose
12	chr10:44182000-44184800	Weak transcription	Left Ventricle	heart
13	chr10:44182000-44184800	Weak transcription	Right Atrium	heart
14	chr10:44182000-44184800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr10:44182200-44184800	Weak transcription	Right Ventricle	heart
16	chr10:44183000-44184800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:44184000-44184200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr10:44184000-44184200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:44184000-44184800	Enhancers	NH-A	brain
20	chr10:44184000-44185200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:44184200-44184600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:44184200-44184800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:44184200-44184800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:44184200-44186200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr10:44184400-44184800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr10:44184400-44184800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr10:44184400-44185200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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