Variant report

Variant	esv3429362
Chromosome Location	chr10:43485634-43486090
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	chr10:43482866..43485744-chr10:43490374..43493373,2	K562	blood:
2	chr10:43484291..43485932-chr10:43488466..43491187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263795	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569297437	chr10:43485644-43485645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530566045	chr10:43485648-43485649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548620359	chr10:43485722-43485723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373633515	chr10:43485734-43485735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567357975	chr10:43485740-43485741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534779596	chr10:43485753-43485754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144440583	chr10:43485773-43485774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571553356	chr10:43485789-43485790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538925826	chr10:43485795-43485796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1109750	chr10:43485800-43485801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575665615	chr10:43485815-43485816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543155737	chr10:43485859-43485860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114945375	chr10:43485880-43485881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17158349	chr10:43485908-43485909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4949062	chr10:43485964-43485965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs565318886	chr10:43485996-43485997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532878493	chr10:43486011-43486012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183275678	chr10:43486040-43486041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3004259	chr10:43486041-43486042	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562947736	chr10:43486045-43486046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115980075	chr10:43486066-43486067	Enhancers Weak transcription	n/a	n/a	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43482400-43487800	Enhancers	Primary T cells from cord blood	blood
2	chr10:43483000-43486800	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:43483800-43486600	Enhancers	Fetal Thymus	thymus
4	chr10:43484000-43496800	Weak transcription	Right Atrium	heart
5	chr10:43484200-43486600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr10:43484400-43486400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr10:43484600-43486000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr10:43484800-43485800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:43485000-43486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:43485000-43486400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:43485800-43486200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr10:43486000-43486200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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