Variant report

Variant	nsv515135
Chromosome Location	chr9:24497668-24508286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 433 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:433 , 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	rs561036447	chr9:24497670-24497671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs147128615	chr9:24497677-24497678	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10966323	chr9:24497684-24497685	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370016775	chr9:24497705-24497706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569338157	chr9:24497706-24497707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562194328	chr9:24497746-24497747	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538230642	chr9:24497748-24497749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551999734	chr9:24497752-24497753	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190262505	chr9:24497810-24497811	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568319048	chr9:24497855-24497856	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554298984	chr9:24497860-24497861	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574284766	chr9:24497865-24497866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368092169	chr9:24497873-24497874	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556883420	chr9:24497881-24497882	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576522304	chr9:24497883-24497884	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs11790619	chr9:24497901-24497902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs74945028	chr9:24497913-24497914	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558786602	chr9:24497937-24497938	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572463531	chr9:24497991-24497992	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35031066	chr9:24498018-24498019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541156613	chr9:24498026-24498027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561182908	chr9:24498027-24498028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529816515	chr9:24498031-24498032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181219068	chr9:24498032-24498033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186090171	chr9:24498038-24498039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144273126	chr9:24498040-24498041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191097125	chr9:24498074-24498075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150778591	chr9:24498118-24498119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200609363	chr9:24498204-24498205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565645661	chr9:24498215-24498216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528238786	chr9:24498219-24498220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547958499	chr9:24498231-24498232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540504879	chr9:24498242-24498243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117529851	chr9:24498261-24498262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12002240	chr9:24498325-24498326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556918595	chr9:24498384-24498385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570317047	chr9:24498391-24498392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528874207	chr9:24498555-24498556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376212660	chr9:24498618-24498619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538664604	chr9:24498670-24498671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182460475	chr9:24498671-24498672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572345962	chr9:24498694-24498695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371136065	chr9:24498695-24498696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541541571	chr9:24498784-24498785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554625785	chr9:24498815-24498816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs577363341	chr9:24498818-24498819	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574307524	chr9:24498853-24498854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543183176	chr9:24498871-24498872	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs563243052	chr9:24498930-24498931	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532392123	chr9:24498948-24498949	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

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	chr9:24495600-24498800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:24495800-24504200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:24496000-24501000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr9:24496400-24498800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:24496600-24498600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:24497000-24499400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:24497200-24502400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:24497600-24498000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr9:24497600-24502600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:24497800-24499400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:24498000-24498400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:24498000-24502600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:24498200-24499400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:24498400-24498600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:24498600-24498800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:24498600-24499800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:24498800-24499000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr9:24498800-24499000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr9:24498800-24499200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr9:24498800-24499800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr9:24499000-24499200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:24499000-24503400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:24499200-24499400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr9:24499200-24499600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr9:24499200-24501200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:24499400-24499600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr9:24499400-24502000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:24499400-24502200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:24499400-24502400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:24499600-24500600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:24499600-24500800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr9:24499800-24500000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr9:24499800-24501400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:24500000-24502000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:24500600-24501800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr9:24500800-24501200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr9:24501000-24502000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr9:24501200-24501600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr9:24501200-24502600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr9:24501400-24503200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:24501600-24503200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:24501800-24502400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:24502000-24502200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr9:24502000-24503000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:24502000-24503200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:24502200-24502400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr9:24502200-24502400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:24502200-24503200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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