Variant report

Variant	nsv508538
Chromosome Location	chr9:17887411-17920964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 712 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146536253	chr9:17888069-17888070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562232899	chr9:17888105-17888106	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370876058	chr9:17888128-17888129	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141236702	chr9:17888129-17888130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143158540	chr9:17888149-17888150	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555179215	chr9:17888151-17888152	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs375202096	chr9:17888238-17888239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77687987	chr9:17888245-17888246	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs367912618	chr9:17888263-17888264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551451186	chr9:17888291-17888292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572871054	chr9:17888296-17888297	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533739167	chr9:17888328-17888329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs60257859	chr9:17888398-17888399	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs7024843	chr9:17888417-17888418	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535877271	chr9:17888418-17888419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556951918	chr9:17888471-17888472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575205180	chr9:17888475-17888476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7024863	chr9:17888484-17888485	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544207544	chr9:17888650-17888651	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs148276126	chr9:17888658-17888659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562690798	chr9:17888684-17888685	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140288877	chr9:17888693-17888694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116477152	chr9:17888726-17888727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562430067	chr9:17888769-17888770	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10810861	chr9:17888838-17888839	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs10810862	chr9:17888926-17888927	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs72693986	chr9:17888952-17888953	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375684947	chr9:17888965-17888966	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181577920	chr9:17888969-17888970	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113099753	chr9:17888981-17888982	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111614342	chr9:17888994-17888995	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548890033	chr9:17889001-17889002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567419918	chr9:17889038-17889039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537771315	chr9:17889068-17889069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202128062	chr9:17889086-17889087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200329262	chr9:17889098-17889099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555991569	chr9:17889106-17889107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200490874	chr9:17889183-17889184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367720346	chr9:17889188-17889189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369887819	chr9:17889221-17889222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143562009	chr9:17889265-17889266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371796469	chr9:17889269-17889270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147170666	chr9:17889282-17889283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113254091	chr9:17889321-17889322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13293394	chr9:17889339-17889340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540691016	chr9:17889342-17889343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555706975	chr9:17889361-17889362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574132947	chr9:17889374-17889375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10963320	chr9:17892660-17892661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557760616	chr9:17892749-17892750	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	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
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17888000-17889000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:17888200-17889000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:17888800-17889400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:17892600-17892800	Enhancers	Fetal Lung	lung
5	chr9:17892800-17893000	Enhancers	Aorta	Aorta
6	chr9:17893000-17894000	Weak transcription	Fetal Lung	lung
7	chr9:17893400-17894600	Enhancers	Hela-S3	cervix
8	chr9:17893600-17894600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr9:17893800-17894000	Enhancers	Right Atrium	heart
10	chr9:17894000-17894600	Active TSS	Aorta	Aorta
11	chr9:17894000-17895600	Enhancers	Fetal Lung	lung
12	chr9:17894400-17894800	Enhancers	Fetal Heart	heart
13	chr9:17894600-17895000	Enhancers	Aorta	Aorta
14	chr9:17894600-17895000	Flanking Active TSS	Hela-S3	cervix
15	chr9:17895000-17895800	Enhancers	Hela-S3	cervix
16	chr9:17895800-17899600	Weak transcription	Hela-S3	cervix
17	chr9:17897000-17897400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:17899600-17902800	Enhancers	Hela-S3	cervix
19	chr9:17900800-17901000	Enhancers	Fetal Brain Male	brain
20	chr9:17900800-17901000	Enhancers	Fetal Muscle Leg	muscle
21	chr9:17903600-17903800	Enhancers	Pancreas	Pancrea
22	chr9:17904000-17904200	Enhancers	Aorta	Aorta
23	chr9:17904200-17905200	Weak transcription	Aorta	Aorta
24	chr9:17904800-17905200	Bivalent Enhancer	Fetal Brain Male	brain
25	chr9:17905000-17905600	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr9:17905200-17905400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr9:17905200-17905400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr9:17905200-17905400	Enhancers	Aorta	Aorta
29	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
30	chr9:17905200-17905400	Bivalent Enhancer	Fetal Brain Female	brain
31	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Heart	heart
32	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
33	chr9:17905200-17905400	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr9:17905200-17905400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr9:17905200-17905400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr9:17905200-17905400	Enhancers	Right Atrium	heart
37	chr9:17905200-17905600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr9:17905200-17905600	Bivalent Enhancer	Fetal Stomach	stomach
39	chr9:17905200-17905800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr9:17905200-17905800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:17905200-17905800	Bivalent Enhancer	Brain Hippocampus Middle	brain
42	chr9:17905200-17905800	Enhancers	Gastric	stomach
43	chr9:17905200-17905800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr9:17905200-17905800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr9:17905200-17906600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr9:17905200-17906800	Active TSS	Rectal Smooth Muscle	rectum
47	chr9:17905200-17907000	Enhancers	Pancreas	Pancrea
48	chr9:17905200-17907600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr9:17905200-17907800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr9:17905400-17905600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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