Variant report

Variant	esv14427
Chromosome Location	chr10:56469623-56503557
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	chr10:56415458..56418401-chr10:56492218..56494776,2	K562	blood:
2	chr10:53779538..53781883-chr10:56470843..56472932,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113482939	chr10:56469674-56469675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547063880	chr10:56469700-56469701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140527407	chr10:56469702-56469703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563340443	chr10:56469713-56469714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141420210	chr10:56469772-56469773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539351811	chr10:56469861-56469862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10825379	chr10:56469887-56469888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10825380	chr10:56469974-56469975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10825381	chr10:56470000-56470001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555114167	chr10:56470008-56470009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150822384	chr10:56470037-56470038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199797265	chr10:56470048-56470049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540649987	chr10:56470049-56470050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560282840	chr10:56470107-56470108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11004454	chr10:56470128-56470129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546189595	chr10:56470164-56470165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570911464	chr10:56470190-56470191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10825382	chr10:56470197-56470198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139331557	chr10:56470200-56470201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs67776107	chr10:56470239-56470240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527365659	chr10:56470248-56470249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569490061	chr10:56470251-56470252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111662876	chr10:56470252-56470253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547418639	chr10:56470269-56470270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570345594	chr10:56470282-56470283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11004456	chr10:56470299-56470300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370783699	chr10:56470324-56470325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549825825	chr10:56470397-56470398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11004457	chr10:56470430-56470431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535680035	chr10:56470432-56470433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117807898	chr10:56470433-56470434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529556110	chr10:56470456-56470457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11004458	chr10:56470472-56470473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531277291	chr10:56470517-56470518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554196988	chr10:56470554-56470555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11004459	chr10:56470583-56470584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187636275	chr10:56470624-56470625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556456383	chr10:56470639-56470640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74136248	chr10:56470649-56470650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs75594018	chr10:56470684-56470685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192539411	chr10:56470688-56470689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377608085	chr10:56470693-56470694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11004460	chr10:56470702-56470703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142836133	chr10:56470703-56470704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11004461	chr10:56470719-56470720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532803774	chr10:56470731-56470732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2225802	chr10:56470741-56470742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2210864	chr10:56470757-56470758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146080857	chr10:56470765-56470766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139929934	chr10:56470774-56470775	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56466400-56471000	Enhancers	Fetal Lung	lung
2	chr10:56469200-56470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:56470600-56471000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:56471000-56472000	Weak transcription	Fetal Lung	lung
5	chr10:56472200-56472400	Enhancers	Fetal Lung	lung
6	chr10:56503200-56504200	Enhancers	Fetal Lung	lung

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