Variant report

Variant	nsv825388
Chromosome Location	chr10:55320235-55328054
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	chr10:55313361..55315052-chr10:55318156..55320737,2	K562	blood:

Extended variants
information (count: 418 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181698568	chr10:55320248-55320249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs430495	chr10:55320281-55320282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs139183767	chr10:55320335-55320336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573177624	chr10:55320344-55320345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73242045	chr10:55320367-55320368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs423146	chr10:55320430-55320431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs453158	chr10:55320437-55320438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543598624	chr10:55320454-55320455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2484209	chr10:55320471-55320472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs632005	chr10:55320515-55320516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532456510	chr10:55320569-55320570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs668434	chr10:55320596-55320597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143069594	chr10:55320650-55320651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs668014	chr10:55320664-55320665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186401326	chr10:55320685-55320686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34427384	chr10:55320706-55320707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375388706	chr10:55320735-55320736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200292443	chr10:55320752-55320753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11421403	chr10:55320753-55320754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67242616	chr10:55320754-55320755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565166583	chr10:55320818-55320819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536966223	chr10:55320834-55320835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138606443	chr10:55320843-55320844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530628612	chr10:55320938-55320939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537416502	chr10:55320986-55320987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550444998	chr10:55320989-55320990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs451485	chr10:55320992-55320993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536013371	chr10:55321002-55321003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567827641	chr10:55321010-55321011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566756719	chr10:55321025-55321026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568145796	chr10:55321061-55321062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192492840	chr10:55321086-55321087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377526038	chr10:55321105-55321106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147406317	chr10:55321137-55321138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577989956	chr10:55321162-55321163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543806648	chr10:55321167-55321168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139637477	chr10:55321205-55321206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182353627	chr10:55321219-55321220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574099382	chr10:55321276-55321277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554009607	chr10:55321277-55321278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs396374	chr10:55321338-55321339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373571926	chr10:55321354-55321355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145306099	chr10:55321370-55321371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs423384	chr10:55321415-55321416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78961916	chr10:55321417-55321418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564890902	chr10:55321429-55321430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530385397	chr10:55321472-55321473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550554295	chr10:55321475-55321476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567223509	chr10:55321485-55321486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186118690	chr10:55321493-55321494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Dysmorphic features	21948486	CNVD
Epilepsy	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
Melanoma	17363583	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55316000-55323400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr10:55316200-55323800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:55320800-55321000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:55321200-55321600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:55321600-55324000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:55323800-55324000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr10:55323800-55324000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:55323800-55324800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:55324200-55324400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:55324800-55334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:55325200-55325400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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