Variant report

Variant	nsv973756
Chromosome Location	chr9:95650489-95656277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 227 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75516637	chr9:95650497-95650498	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs537030473	chr9:95650566-95650567	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187219167	chr9:95650599-95650600	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190441439	chr9:95650613-95650614	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535118998	chr9:95650664-95650665	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143438020	chr9:95650688-95650689	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117584611	chr9:95650690-95650691	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181913276	chr9:95650698-95650699	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573755600	chr9:95650699-95650700	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375006081	chr9:95650711-95650712	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12683215	chr9:95650759-95650760	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554884521	chr9:95650789-95650790	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576440717	chr9:95650820-95650821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568095328	chr9:95650848-95650849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543410013	chr9:95650868-95650869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564918914	chr9:95650870-95650871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535616278	chr9:95650896-95650897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576817346	chr9:95650930-95650931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147993268	chr9:95650935-95650936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186251752	chr9:95650994-95650995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73522576	chr9:95651000-95651001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190573134	chr9:95651019-95651020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563603449	chr9:95651038-95651039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559988686	chr9:95651085-95651086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142966331	chr9:95651086-95651087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181356763	chr9:95651089-95651090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78555683	chr9:95651092-95651093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570832329	chr9:95651121-95651122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539703265	chr9:95651143-95651144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534746183	chr9:95651197-95651198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9409668	chr9:95651202-95651203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568491601	chr9:95651248-95651249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143177416	chr9:95651278-95651279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186390280	chr9:95651297-95651298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372518306	chr9:95651305-95651306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75210831	chr9:95651387-95651388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537346780	chr9:95651402-95651403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558226801	chr9:95651439-95651440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190834095	chr9:95651472-95651473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561541176	chr9:95651500-95651501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147517016	chr9:95651502-95651503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574209104	chr9:95651522-95651523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541989892	chr9:95651563-95651564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563541770	chr9:95651606-95651607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75550211	chr9:95651607-95651608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182638196	chr9:95651632-95651633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56106842	chr9:95651646-95651647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111634139	chr9:95651659-95651660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564676053	chr9:95651769-95651770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139401179	chr9:95651784-95651785	Weak transcription Enhancers	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95647800-95651600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:95648400-95651400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:95648400-95651600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr9:95648600-95650800	Enhancers	Dnd41	blood
5	chr9:95648600-95651000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:95648600-95651400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr9:95648600-95651600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr9:95648800-95650600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr9:95648800-95650600	Enhancers	Thymus	Thymus
10	chr9:95648800-95651400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:95648800-95651600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr9:95648800-95652000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr9:95649000-95650600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:95649000-95650800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:95649000-95650800	Enhancers	Fetal Thymus	thymus
16	chr9:95649200-95650600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr9:95649600-95650600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr9:95649600-95650600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr9:95649800-95650600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr9:95649800-95650800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:95650200-95650600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:95650400-95650600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:95650400-95650600	Enhancers	Fetal Brain Female	brain
24	chr9:95650400-95650600	Enhancers	Fetal Muscle Trunk	muscle
25	chr9:95650400-95650800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr9:95650600-95650800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:95650600-95651000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:95650600-95651000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr9:95650600-95651600	Enhancers	Primary T cells from cord blood	blood
30	chr9:95650600-95651600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr9:95650600-95652400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr9:95650600-95652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:95651000-95652800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:95651000-95653000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr9:95651200-95651400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr9:95651200-95651400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:95651400-95652800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr9:95651600-95652800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:95652600-95653400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:95652600-95654400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:95652600-95654400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:95652800-95653800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:95652800-95653800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:95652800-95654000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:95652800-95654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:95652800-95654600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr9:95653000-95653200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr9:95653000-95653800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:95653000-95654000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:95653400-95654000	Enhancers	H9 Cell Line	embryonic stem cell

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