Variant report

Variant	esv3412374
Chromosome Location	chr10:94573086-94573550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94570750..94573230-chr9:35284515..35286872,2	MCF-7	breast:
2	chr10:94573421..94575558-chr10:94607674..94610490,2	K562	blood:
3	chr10:94571094..94575993-chr10:94578849..94584538,5	K562	blood:
4	chr10:94573532..94575381-chr10:94733673..94736569,2	K562	blood:

Variant related genes	Relation type
ENSG00000138190	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371385574	chr10:94573097-94573098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574245912	chr10:94573102-94573103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543244234	chr10:94573103-94573104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142422631	chr10:94573138-94573139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563914594	chr10:94573202-94573203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12245143	chr10:94573235-94573236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111483833	chr10:94573238-94573239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565346968	chr10:94573246-94573247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138575295	chr10:94573266-94573267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547429716	chr10:94573287-94573288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200354857	chr10:94573321-94573322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566806198	chr10:94573328-94573329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535378064	chr10:94573329-94573330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548800566	chr10:94573344-94573345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148881714	chr10:94573354-94573355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59373369	chr10:94573373-94573374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115398558	chr10:94573383-94573384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79697883	chr10:94573394-94573395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577618383	chr10:94573402-94573403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533829730	chr10:94573408-94573409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143584507	chr10:94573454-94573455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574306778	chr10:94573462-94573463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543318753	chr10:94573469-94573470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563150436	chr10:94573477-94573478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576729191	chr10:94573517-94573518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114798314	chr10:94573528-94573529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4933744	chr10:94573550-94573551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94571000-94574400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:94571200-94574600	Weak transcription	K562	blood
3	chr10:94572000-94575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:94572200-94574000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:94572200-94574200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:94572200-94574800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:94572400-94573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:94572400-94574000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:94572600-94573800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:94572600-94573800	Weak transcription	HUVEC	blood vessel

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