Variant report

Variant	esv16567
Chromosome Location	chr10:50205831-50206997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372997444	chr10:50205867-50205868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548756857	chr10:50205895-50205896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145217927	chr10:50205902-50205903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528346800	chr10:50205926-50205927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77774871	chr10:50206003-50206004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185823157	chr10:50206039-50206040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538213268	chr10:50206048-50206049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550650169	chr10:50206051-50206052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568967231	chr10:50206102-50206103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2090126	chr10:50206125-50206126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs191072429	chr10:50206133-50206134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377604268	chr10:50206162-50206163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs207470868	chr10:50206204-50206205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373163108	chr10:50206206-50206207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535344402	chr10:50206229-50206230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553350710	chr10:50206232-50206233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116409323	chr10:50206249-50206250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545071298	chr10:50206279-50206280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112852132	chr10:50206300-50206301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539410947	chr10:50206301-50206302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142680053	chr10:50206329-50206330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560768968	chr10:50206390-50206391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371155034	chr10:50206395-50206396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528235299	chr10:50206407-50206408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181933077	chr10:50206447-50206448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564982649	chr10:50206478-50206479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532177352	chr10:50206509-50206510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369099505	chr10:50206510-50206511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111903735	chr10:50206550-50206551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4587657	chr10:50206558-50206559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372839560	chr10:50206609-50206610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550293864	chr10:50206632-50206633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76557251	chr10:50206697-50206698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529838608	chr10:50206708-50206709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548274352	chr10:50206720-50206721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76008730	chr10:50206733-50206734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534859162	chr10:50206759-50206760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187672816	chr10:50206770-50206771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78381019	chr10:50206780-50206781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114527909	chr10:50206804-50206805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556913375	chr10:50206817-50206818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115471022	chr10:50206853-50206854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566599784	chr10:50206854-50206855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542725634	chr10:50206891-50206892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554601175	chr10:50206921-50206922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572701232	chr10:50206931-50206932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191554016	chr10:50206944-50206945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565220849	chr10:50206974-50206975	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50205000-50206600	Weak transcription	Fetal Intestine Large	intestine
2	chr10:50205200-50206200	Weak transcription	Fetal Intestine Small	intestine
3	chr10:50206200-50210400	Enhancers	Duodenum Mucosa	Duodenum
4	chr10:50206200-50211200	Enhancers	Fetal Intestine Small	intestine
5	chr10:50206600-50211000	Enhancers	Fetal Intestine Large	intestine
6	chr10:50206800-50209800	Enhancers	Stomach Mucosa	stomach

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