Variant report

Variant	nsv1051273
Chromosome Location	chr10:55551887-55577543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:55558585..55559152-chr17:58469714..58470538,2	MCF-7	breast:
2	chr10:55360883..55361625-chr10:55568215..55569121,2	MCF-7	breast:
3	chr10:55057963..55058535-chr10:55568196..55569129,2	MCF-7	breast:
4	chr10:55549906..55552050-chr10:55558959..55560597,2	K562	blood:
5	chr10:55549906..55552050-chr10:55558959..55560597,2	K562	blood:

Variant related genes	Relation type
ENSG00000170832	chromatin interactions
ENSG00000141371	chromatin interactions

Extended variants
information (count: 341 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558272074	chr10:55558589-55558590	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530997733	chr10:55558608-55558609	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376182472	chr10:55558609-55558610	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs3065509	chr10:55558616-55558617	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs4584491	chr10:55558629-55558630	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34841589	chr10:55558640-55558641	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546700176	chr10:55558679-55558680	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566890792	chr10:55558698-55558699	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138177526	chr10:55558702-55558703	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs149559619	chr10:55558738-55558739	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11003855	chr10:55558759-55558760	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs193070461	chr10:55558797-55558798	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555107528	chr10:55558800-55558801	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575051185	chr10:55558847-55558848	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1361806	chr10:55558855-55558856	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185070453	chr10:55558874-55558875	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs118060749	chr10:55558887-55558888	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545395234	chr10:55558944-55558945	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs117136494	chr10:55558954-55558955	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188727887	chr10:55558973-55558974	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531265840	chr10:55559002-55559003	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4522077	chr10:55559039-55559040	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192391255	chr10:55559085-55559086	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185092814	chr10:55559095-55559096	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188242422	chr10:55559096-55559097	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7478212	chr10:55559110-55559111	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374600363	chr10:55562428-55562429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550444973	chr10:55562444-55562445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16937763	chr10:55562463-55562464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141203590	chr10:55562511-55562512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546738794	chr10:55562531-55562532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566451444	chr10:55562543-55562544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538571916	chr10:55562562-55562563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186173287	chr10:55562673-55562674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577655394	chr10:55562682-55562683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74459175	chr10:55562692-55562693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554168893	chr10:55562709-55562710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574040038	chr10:55562718-55562719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10825112	chr10:55562795-55562796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373461322	chr10:55562798-55562799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144842019	chr10:55562825-55562826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116321896	chr10:55562826-55562827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545752800	chr10:55562832-55562833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528927771	chr10:55562835-55562836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565570787	chr10:55562839-55562840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530473074	chr10:55562871-55562872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75679096	chr10:55562909-55562910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35060340	chr10:55562916-55562917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541756757	chr10:55562999-55563000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11003860	chr10:55563013-55563014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
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	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55562400-55568600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:55566400-55566800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:55566400-55566800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:55566400-55567000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:55568400-55568600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:55568400-55569000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:55568600-55568800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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