Variant report

Variant	nsv947617
Chromosome Location	chr10:55229143-55241770
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	chr10:55228435..55230987-chr10:55235490..55236993,2	K562	blood:
2	chr10:55228435..55230987-chr10:55235490..55236993,2	K562	blood:

Extended variants
information (count: 460 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527418378	chr10:55229166-55229167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112780741	chr10:55229197-55229198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547157126	chr10:55229201-55229202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570315730	chr10:55229210-55229211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145707613	chr10:55229221-55229222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556078851	chr10:55229244-55229245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113494816	chr10:55229267-55229268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538264202	chr10:55229324-55229325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573404978	chr10:55229389-55229390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193295534	chr10:55229391-55229392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183774170	chr10:55229434-55229435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536003768	chr10:55229489-55229490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73347303	chr10:55229498-55229499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554362833	chr10:55229532-55229533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148226225	chr10:55229534-55229535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs398054352	chr10:55229562-55229563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374098030	chr10:55229565-55229566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11003632	chr10:55229566-55229567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543278649	chr10:55229568-55229569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556669518	chr10:55229672-55229673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563211523	chr10:55229689-55229690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138025894	chr10:55229696-55229697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142528400	chr10:55229736-55229737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561547376	chr10:55229756-55229757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7094553	chr10:55229775-55229776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541107523	chr10:55229779-55229780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188302180	chr10:55229830-55229831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375571991	chr10:55229862-55229863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181122580	chr10:55229865-55229866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376967264	chr10:55229912-55229913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7098021	chr10:55229934-55229935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184235063	chr10:55229938-55229939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377346486	chr10:55229945-55229946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10825026	chr10:55229956-55229957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548521737	chr10:55230044-55230045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544687086	chr10:55230140-55230141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561175704	chr10:55230160-55230161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568364156	chr10:55230174-55230175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534287583	chr10:55230199-55230200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554350693	chr10:55230200-55230201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200712101	chr10:55230201-55230202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577500136	chr10:55230231-55230232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190134010	chr10:55230256-55230257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540067684	chr10:55230287-55230288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556818255	chr10:55230289-55230290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144897135	chr10:55230351-55230352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181675739	chr10:55230374-55230375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148281158	chr10:55230426-55230427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571985382	chr10:55230460-55230461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2454527	chr10:55230550-55230551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55223600-55234000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:55228400-55230400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:55228400-55236000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:55229000-55230200	Enhancers	Liver	Liver
5	chr10:55231200-55234200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:55232000-55234200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:55233800-55241200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:55234000-55234400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:55234000-55234600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:55234000-55239000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:55234200-55234400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr10:55234200-55234400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr10:55234200-55237800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:55234400-55235200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:55234400-55236000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:55234400-55236800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr10:55234600-55234800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:55234600-55235000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:55234600-55235600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:55234800-55235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr10:55235000-55236200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:55235000-55239000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:55235200-55235400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:55235200-55238200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:55235400-55236400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:55235600-55236800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:55235600-55237800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr10:55236000-55238200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr10:55236000-55238200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr10:55236200-55237000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:55236200-55238200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr10:55236400-55240000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:55236600-55237400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:55236600-55237400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:55236800-55237400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr10:55236800-55238200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr10:55237000-55237400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr10:55237000-55238200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:55237200-55237600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:55237400-55238800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:55237400-55239000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr10:55237400-55242000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:55237400-55244400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr10:55237600-55239000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr10:55237800-55238600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:55237800-55238800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr10:55238200-55238600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:55238200-55239000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr10:55238200-55239000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr10:55238200-55239200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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