Variant report

Variant	esv3389944
Chromosome Location	chr10:55703946-55708744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573163763	chr10:55706600-55706601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142221766	chr10:55706617-55706618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529832849	chr10:55706620-55706621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369049276	chr10:55706712-55706713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151213142	chr10:55706743-55706744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543965963	chr10:55706752-55706753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558510601	chr10:55706760-55706761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566735506	chr10:55706766-55706767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188602134	chr10:55706769-55706770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540397048	chr10:55706825-55706826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7912992	chr10:55706830-55706831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532434253	chr10:55706860-55706861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551827020	chr10:55706879-55706880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77681105	chr10:55706887-55706888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562247120	chr10:55706974-55706975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369341059	chr10:55706979-55706980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530893794	chr10:55707001-55707002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550797782	chr10:55707020-55707021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116763224	chr10:55707111-55707112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536460288	chr10:55707175-55707176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11003940	chr10:55707274-55707275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140115322	chr10:55707278-55707279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147573757	chr10:55707315-55707316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538293663	chr10:55707340-55707341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538941755	chr10:55707363-55707364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541617285	chr10:55707378-55707379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558173095	chr10:55707413-55707414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560137317	chr10:55707417-55707418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377685170	chr10:55707418-55707419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36074661	chr10:55707431-55707432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545810920	chr10:55707441-55707442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564469496	chr10:55707497-55707498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144004907	chr10:55707521-55707522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193264635	chr10:55707546-55707547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184321764	chr10:55707570-55707571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574440304	chr10:55707633-55707634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540089705	chr10:55707654-55707655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560367955	chr10:55707681-55707682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577257279	chr10:55707768-55707769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146418532	chr10:55707771-55707772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560662917	chr10:55707778-55707779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58459060	chr10:55707784-55707785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186964356	chr10:55707794-55707795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530832131	chr10:55707799-55707800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372300150	chr10:55707808-55707809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550917613	chr10:55707834-55707835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191696324	chr10:55707835-55707836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140949131	chr10:55707851-55707852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2166620	chr10:55707896-55707897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs77949187	chr10:55707925-55707926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55706600-55710400	Weak transcription	HepG2	liver

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