Variant report

Variant	nsv948015
Chromosome Location	chr10:56521935-56528691
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	chr10:56526299..56528028-chr10:56531368..56533054,2	K562	blood:
2	chr10:56524841..56527754-chr10:56535899..56538801,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144355761	chr10:56527423-56527424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80190400	chr10:56527424-56527425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571179753	chr10:56527456-56527457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575909415	chr10:56527510-56527511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146165254	chr10:56527512-56527513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567306662	chr10:56527523-56527524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187879435	chr10:56527540-56527541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375459840	chr10:56527558-56527559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553128465	chr10:56527576-56527577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117557957	chr10:56527608-56527609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541654753	chr10:56527632-56527633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544892918	chr10:56527723-56527724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149779434	chr10:56527725-56527726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192522479	chr10:56527756-56527757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145700725	chr10:56527763-56527764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529277694	chr10:56527773-56527774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542684433	chr10:56527812-56527813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548742584	chr10:56527866-56527867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148920236	chr10:56527917-56527918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528229155	chr10:56527954-56527955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184445584	chr10:56527982-56527983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571464234	chr10:56528028-56528029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530700791	chr10:56528029-56528030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375243418	chr10:56528032-56528033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538219668	chr10:56528042-56528043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188820064	chr10:56528081-56528082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567245267	chr10:56528084-56528085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536272409	chr10:56528091-56528092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567167143	chr10:56528095-56528096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142882481	chr10:56528097-56528098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534605808	chr10:56528098-56528099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566576584	chr10:56528112-56528113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147681724	chr10:56528115-56528116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558060994	chr10:56528122-56528123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578148838	chr10:56528131-56528132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543736067	chr10:56528143-56528144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557656340	chr10:56528151-56528152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181191409	chr10:56528163-56528164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72637043	chr10:56528170-56528171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559372250	chr10:56528179-56528180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528560756	chr10:56528193-56528194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553562024	chr10:56528235-56528236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545520151	chr10:56528274-56528275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367876048	chr10:56528278-56528279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142178485	chr10:56528324-56528325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368585765	chr10:56528331-56528332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184611622	chr10:56528359-56528360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573462515	chr10:56528360-56528361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188928461	chr10:56528416-56528417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181943394	chr10:56528425-56528426	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	chr10:56527400-56531000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:56528400-56528600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:56528400-56529600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:56528400-56529600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:56528600-56529200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:56528600-56533400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links