Variant report

Variant	esv3420969
Chromosome Location	chr9:93487232-93491430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93488538..93489219-chr9:93535809..93536399,2	MCF-7	breast:
2	chr9:93488467..93489082-chr9:93633187..93633730,2	MCF-7	breast:
3	chr9:93488890..93491318-chr9:93493066..93496177,3	MCF-7	breast:
4	chr9:93484649..93486514-chr9:93487785..93489688,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1172921	chr9:93487241-93487242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544996434	chr9:93487274-93487275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564874207	chr9:93487275-93487276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575176773	chr9:93487337-93487338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370858566	chr9:93487351-93487352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544422064	chr9:93487406-93487407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189752422	chr9:93487457-93487458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150663700	chr9:93487488-93487489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139902292	chr9:93487528-93487529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546332147	chr9:93487541-93487542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567290052	chr9:93487542-93487543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560190358	chr9:93487548-93487549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532186208	chr9:93487591-93487592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529643142	chr9:93487631-93487632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552187224	chr9:93487663-93487664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572000168	chr9:93487707-93487708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537713602	chr9:93487710-93487711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551173605	chr9:93487711-93487712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567712601	chr9:93487780-93487781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183868505	chr9:93487963-93487964	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs553236293	chr9:93487964-93487965	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs557392980	chr9:93487969-93487970	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs188867009	chr9:93487981-93487982	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs113406120	chr9:93488011-93488012	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs934132	chr9:93488015-93488016	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs539978711	chr9:93488028-93488029	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs558505652	chr9:93488069-93488070	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs1469459	chr9:93488070-93488071	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs193043421	chr9:93488082-93488083	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs147538275	chr9:93488092-93488093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs71494420	chr9:93488116-93488117	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574592444	chr9:93488133-93488134	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs540414279	chr9:93488201-93488202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560325172	chr9:93488237-93488238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76321300	chr9:93488259-93488260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545838015	chr9:93488265-93488266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571494094	chr9:93488266-93488267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139819067	chr9:93488272-93488273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145347976	chr9:93488279-93488280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550944620	chr9:93488327-93488328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115686227	chr9:93488329-93488330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73493522	chr9:93488372-93488373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547154200	chr9:93488373-93488374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183360617	chr9:93488392-93488393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553822549	chr9:93488398-93488399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538717302	chr9:93488425-93488426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558544350	chr9:93488452-93488453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7046656	chr9:93488461-93488462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573960136	chr9:93488496-93488497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554608631	chr9:93488514-93488515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93484600-93487400	Weak transcription	Thymus	Thymus
2	chr9:93484600-93489800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:93486800-93488200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr9:93486800-93488200	Enhancers	Fetal Thymus	thymus
5	chr9:93487200-93487600	Enhancers	Primary B cells from peripheral blood	blood
6	chr9:93487400-93488800	Enhancers	Thymus	Thymus
7	chr9:93487600-93488200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr9:93487600-93488400	Enhancers	Primary hematopoietic stem cells	blood
9	chr9:93487800-93488200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr9:93488200-93488400	Enhancers	Adipose Nuclei	Adipose
11	chr9:93489000-93490200	Weak transcription	Adipose Nuclei	Adipose
12	chr9:93489800-93490200	Enhancers	Fetal Kidney	kidney
13	chr9:93489800-93490800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:93490000-93490400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:93490200-93490800	Enhancers	Adipose Nuclei	Adipose
16	chr9:93490800-93499000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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