Variant report

Variant	nsv8428
Chromosome Location	chr9:24496510-24499685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35986347	chr9:24496576-24496577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573667216	chr9:24496713-24496714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560822366	chr9:24496727-24496728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538368560	chr9:24496772-24496773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529284544	chr9:24496780-24496781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185705391	chr9:24496810-24496811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534096407	chr9:24496904-24496905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79022543	chr9:24496920-24496921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397733045	chr9:24496921-24496922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562971498	chr9:24496988-24496989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147992088	chr9:24497027-24497028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551904740	chr9:24497036-24497037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564961678	chr9:24497046-24497047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527466604	chr9:24497052-24497053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547391075	chr9:24497083-24497084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375167471	chr9:24497122-24497123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112409332	chr9:24497126-24497127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113075152	chr9:24497167-24497168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535847556	chr9:24497169-24497170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549324679	chr9:24497210-24497211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569299585	chr9:24497218-24497219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575440383	chr9:24497219-24497220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372421098	chr9:24497223-24497224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538392180	chr9:24497228-24497229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558596789	chr9:24497247-24497248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578134209	chr9:24497250-24497251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534366082	chr9:24497256-24497257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554187740	chr9:24497304-24497305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545667751	chr9:24497309-24497310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558070736	chr9:24497346-24497347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574333976	chr9:24497358-24497359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564231551	chr9:24497360-24497361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562920429	chr9:24497391-24497392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554414074	chr9:24497395-24497396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137897983	chr9:24497414-24497415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576486100	chr9:24497450-24497451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202058276	chr9:24497476-24497477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545554430	chr9:24497499-24497500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576223454	chr9:24497520-24497521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12347155	chr9:24497521-24497522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527516601	chr9:24497600-24497601	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369410266	chr9:24497604-24497605	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561036447	chr9:24497670-24497671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs147128615	chr9:24497677-24497678	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs10966323	chr9:24497684-24497685	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370016775	chr9:24497705-24497706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569338157	chr9:24497706-24497707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs562194328	chr9:24497746-24497747	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538230642	chr9:24497748-24497749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs551999734	chr9:24497752-24497753	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24495000-24502200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr9:24495200-24498800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr9:24495400-24497600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:24495600-24498800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:24495800-24496600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:24495800-24504200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:24496000-24496600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr9:24496000-24501000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:24496400-24497600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr9:24496400-24498800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:24496600-24497000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:24496600-24498600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:24497000-24497200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr9:24497000-24497200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:24497000-24499400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:24497200-24502400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:24497600-24498000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr9:24497600-24502600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:24497800-24499400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:24498000-24498400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:24498000-24502600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:24498200-24499400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:24498400-24498600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr9:24498600-24498800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:24498600-24499800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:24498800-24499000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr9:24498800-24499000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr9:24498800-24499200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr9:24498800-24499800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr9:24499000-24499200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:24499000-24503400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:24499200-24499400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr9:24499200-24499600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr9:24499200-24501200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:24499400-24499600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr9:24499400-24502000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:24499400-24502200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:24499400-24502400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:24499600-24500600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:24499600-24500800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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