Variant report

Variant	esv3370014
Chromosome Location	chr10:43908314-43908505
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	chr10:43907404..43911087-chr10:43912336..43916767,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230555	chromatin interactions
ENSG00000221400	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 54 )

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	rs547845486	chr10:43908314-43908315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2492412	chr10:43908411-43908412	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536214223	chr10:43908429-43908430	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181793566	chr10:43908436-43908437	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535081829	chr10:43908439-43908440	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553762047	chr10:43908454-43908455	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs143244012	chr10:43908461-43908462	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21509527	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43905600-43913600	Weak transcription	Esophagus	oesophagus
2	chr10:43905800-43911000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:43905800-43913400	Weak transcription	Fetal Intestine Small	intestine
4	chr10:43905800-43913800	Weak transcription	Stomach Mucosa	stomach
5	chr10:43905800-43915600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:43905800-43915600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:43906000-43908600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr10:43906000-43915800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:43906200-43908600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:43906200-43908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:43906200-43908800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr10:43906200-43911600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:43906200-43911600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:43906200-43911800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:43906200-43912000	Weak transcription	Dnd41	blood
16	chr10:43906200-43915200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:43906400-43915600	Weak transcription	Hela-S3	cervix
18	chr10:43907600-43915600	Weak transcription	NHEK	skin
19	chr10:43907800-43908800	Weak transcription	K562	blood
20	chr10:43907800-43913600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr10:43908000-43908400	Weak transcription	HepG2	liver
22	chr10:43908400-43909000	Enhancers	HepG2	liver

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