Variant report

Variant	esv3325468
Chromosome Location	chr9:93668231-93672529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93668679..93670953-chr9:93672594..93674147,2	MCF-7	breast:
2	chr9:93671159..93672767-chr9:93675505..93677401,2	MCF-7	breast:
3	chr9:93663803..93666735-chr9:93669884..93671641,2	K562	blood:
4	chr9:93664277..93666990-chr9:93670141..93672637,4	K562	blood:
5	chr9:93667547..93672614-chr9:93675610..93678546,4	MCF-7	breast:
6	chr9:93669822..93671839-chr9:93675498..93677412,2	K562	blood:

Extended variants
information (count: 209 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:209 , 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	rs529865047	chr9:93668270-93668271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184051245	chr9:93668312-93668313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188685865	chr9:93668321-93668322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10993758	chr9:93668327-93668328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs180767771	chr9:93668369-93668370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568881451	chr9:93668434-93668435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553771042	chr9:93668441-93668442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537432432	chr9:93668495-93668496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10993759	chr9:93668547-93668548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574408149	chr9:93668563-93668564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147824822	chr9:93668570-93668571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139178240	chr9:93668584-93668585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573429598	chr9:93668595-93668596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545534200	chr9:93668617-93668618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565228682	chr9:93668666-93668667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530971177	chr9:93668723-93668724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149954684	chr9:93668738-93668739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10993760	chr9:93668751-93668752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529951887	chr9:93668774-93668775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546445662	chr9:93668780-93668781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544690356	chr9:93668785-93668786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs928208	chr9:93668786-93668787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552289113	chr9:93668809-93668810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568842973	chr9:93668817-93668818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76035368	chr9:93668841-93668842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145140813	chr9:93668842-93668843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375449911	chr9:93668876-93668877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184639485	chr9:93668877-93668878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190221814	chr9:93668890-93668891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10993761	chr9:93668891-93668892	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs149026801	chr9:93668893-93668894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559039766	chr9:93668894-93668895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575668213	chr9:93668900-93668901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544656476	chr9:93668901-93668902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560953992	chr9:93668920-93668921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574443588	chr9:93668950-93668951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529494293	chr9:93668957-93668958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540182102	chr9:93668966-93668967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539396375	chr9:93668970-93668971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143044620	chr9:93668985-93668986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146684546	chr9:93669009-93669010	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs532371338	chr9:93669058-93669059	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs562797506	chr9:93669063-93669064	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs140299585	chr9:93669076-93669077	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs569455887	chr9:93669191-93669192	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs562669663	chr9:93669196-93669197	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs531315932	chr9:93669216-93669217	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs182405671	chr9:93669260-93669261	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs186636472	chr9:93669262-93669263	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs167100	chr9:93669278-93669279	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93658800-93683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:93660400-93671400	Weak transcription	GM12878-XiMat	blood
3	chr9:93662000-93670400	Weak transcription	Fetal Lung	lung
4	chr9:93662000-93677000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:93662400-93671200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:93663200-93672200	Weak transcription	Spleen	Spleen
7	chr9:93663200-93673800	Weak transcription	Thymus	Thymus
8	chr9:93663400-93673600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr9:93664800-93673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:93664800-93673400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr9:93664800-93673600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:93665000-93673400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:93665000-93673800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:93666200-93670200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr9:93666600-93673600	Weak transcription	Primary B cells from cord blood	blood
16	chr9:93667200-93668400	Weak transcription	Fetal Thymus	thymus
17	chr9:93667400-93670600	Weak transcription	Pancreas	Pancrea
18	chr9:93668000-93670200	Weak transcription	Esophagus	oesophagus
19	chr9:93668200-93670200	Weak transcription	Fetal Kidney	kidney
20	chr9:93668600-93668800	Enhancers	Fetal Thymus	thymus
21	chr9:93668600-93669600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:93669000-93669400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:93669000-93669600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:93669600-93677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:93670200-93670400	Enhancers	Esophagus	oesophagus
26	chr9:93670200-93670600	ZNF genes & repeats	Fetal Kidney	kidney
27	chr9:93670400-93670600	Flanking Active TSS	Fetal Lung	lung
28	chr9:93671200-93674600	Enhancers	Primary B cells from peripheral blood	blood
29	chr9:93671400-93674000	Enhancers	GM12878-XiMat	blood
30	chr9:93671600-93674800	Weak transcription	Fetal Stomach	stomach
31	chr9:93672200-93673000	Enhancers	Spleen	Spleen

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