Variant report

Variant	nsv968730
Chromosome Location	chr9:96276848-96278561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550792588	chr9:96276856-96276857	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568966785	chr9:96276882-96276883	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10992769	chr9:96276910-96276911	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs377578354	chr9:96276983-96276984	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551283178	chr9:96276991-96276992	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55654600	chr9:96277018-96277019	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs533575818	chr9:96277019-96277020	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529466593	chr9:96277024-96277025	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554919716	chr9:96277038-96277039	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573725116	chr9:96277076-96277077	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10121548	chr9:96277090-96277091	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548013438	chr9:96277116-96277117	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556179714	chr9:96277128-96277129	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578128234	chr9:96277129-96277130	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184768583	chr9:96277135-96277136	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189150384	chr9:96277136-96277137	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151064866	chr9:96277266-96277267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543092644	chr9:96277282-96277283	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561118092	chr9:96277300-96277301	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181444331	chr9:96277315-96277316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114068858	chr9:96277365-96277366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565352262	chr9:96277366-96277367	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397834985	chr9:96277369-96277370	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532975391	chr9:96277389-96277390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551143814	chr9:96277392-96277393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2254941	chr9:96277418-96277419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112123619	chr9:96277424-96277425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2254940	chr9:96277431-96277432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112066094	chr9:96277445-96277446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79838288	chr9:96277462-96277463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs548606665	chr9:96277567-96277568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113111917	chr9:96277568-96277569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201369322	chr9:96277597-96277598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567156372	chr9:96277671-96277672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537822665	chr9:96277719-96277720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199712272	chr9:96277751-96277752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200966999	chr9:96277833-96277834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577653674	chr9:96277860-96277861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201570221	chr9:96277988-96277989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539265072	chr9:96278070-96278071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201087111	chr9:96278073-96278074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200933064	chr9:96278092-96278093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201640680	chr9:96278093-96278094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554405587	chr9:96278098-96278099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572817649	chr9:96278099-96278100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543353286	chr9:96278241-96278242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561581700	chr9:96278244-96278245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112212909	chr9:96278290-96278291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200536689	chr9:96278291-96278292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201107481	chr9:96278297-96278298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96229600-96286200	Weak transcription	Fetal Brain Male	brain
2	chr9:96243000-96288000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:96260800-96290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:96262200-96289000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:96263200-96285800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:96263200-96287600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:96263200-96290200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:96263400-96289000	Weak transcription	Fetal Kidney	kidney
9	chr9:96263600-96280200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:96264000-96280400	Weak transcription	Colonic Mucosa	Colon
11	chr9:96264000-96281600	Weak transcription	Aorta	Aorta
12	chr9:96264000-96286600	Weak transcription	NH-A	brain
13	chr9:96264200-96281800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr9:96264200-96288400	Weak transcription	HSMMtube	muscle
15	chr9:96265800-96278400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:96265800-96286200	Weak transcription	HUVEC	blood vessel
17	chr9:96265800-96286400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:96266000-96279800	Weak transcription	HSMM	muscle
19	chr9:96266600-96279200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:96267200-96279200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:96267200-96279800	Weak transcription	NHDF-Ad	bronchial
22	chr9:96268000-96278600	Weak transcription	Liver	Liver
23	chr9:96268000-96286400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr9:96268400-96279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:96268600-96279200	Weak transcription	Hela-S3	cervix
26	chr9:96268600-96279800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:96268600-96282200	Weak transcription	Osteobl	bone
28	chr9:96268800-96278800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr9:96270200-96278400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:96270400-96279200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:96270800-96285400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr9:96270800-96291600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr9:96271600-96278400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:96271600-96282200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr9:96271800-96278400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:96272000-96279200	Weak transcription	HMEC	breast
37	chr9:96273400-96277400	Enhancers	Fetal Heart	heart
38	chr9:96273800-96286600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:96274000-96277800	Strong transcription	Dnd41	blood
40	chr9:96274000-96279000	Weak transcription	HepG2	liver
41	chr9:96274000-96279800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:96274000-96291000	Weak transcription	Small Intestine	intestine
43	chr9:96274200-96277000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:96274200-96278400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr9:96274200-96279000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr9:96274200-96279000	Weak transcription	A549	lung
47	chr9:96274200-96280000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr9:96274600-96278800	Weak transcription	Placenta	Placenta
49	chr9:96274600-96279000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr9:96274600-96279400	Weak transcription	Muscle Satellite Cultured Cells	--

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