Variant report

Variant	esv1011248
Chromosome Location	chr9:15393659-15394532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:15393231..15396045-chr9:15401354..15402871,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530067535	chr9:15393699-15393700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139352992	chr9:15393700-15393701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143274064	chr9:15393705-15393706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560880066	chr9:15393709-15393710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574277527	chr9:15393713-15393714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10962017	chr9:15393714-15393715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs200782008	chr9:15393761-15393762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188051794	chr9:15393775-15393776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570980480	chr9:15393785-15393786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535198970	chr9:15393786-15393787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547012782	chr9:15393805-15393806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2185939	chr9:15393806-15393807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536303127	chr9:15393816-15393817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114350486	chr9:15393825-15393826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138128910	chr9:15393826-15393827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537161084	chr9:15393870-15393871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2798705	chr9:15393875-15393876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576989558	chr9:15393878-15393879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536687847	chr9:15393886-15393887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371045392	chr9:15393894-15393895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574387641	chr9:15393902-15393903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192984522	chr9:15393905-15393906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563350325	chr9:15393922-15393923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373018573	chr9:15393936-15393937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80058930	chr9:15393959-15393960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78086583	chr9:15393961-15393962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75559196	chr9:15393964-15393965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552257880	chr9:15393970-15393971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149556642	chr9:15393973-15393974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552420367	chr9:15393977-15393978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564589227	chr9:15393984-15393985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144303059	chr9:15394025-15394026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148741291	chr9:15394094-15394095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377337865	chr9:15394098-15394099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370741825	chr9:15394105-15394106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77265624	chr9:15394131-15394132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62572994	chr9:15394133-15394134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113775712	chr9:15394138-15394139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2798706	chr9:15394142-15394143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551263146	chr9:15394159-15394160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7034039	chr9:15394160-15394161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537027043	chr9:15394177-15394178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114376507	chr9:15394226-15394227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567991642	chr9:15394263-15394264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184663515	chr9:15394264-15394265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76709331	chr9:15394274-15394275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553135055	chr9:15394290-15394291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2804996	chr9:15394347-15394348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs78388392	chr9:15394359-15394360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567066187	chr9:15394380-15394381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15387400-15393800	Enhancers	Fetal Intestine Large	intestine
2	chr9:15388400-15394200	Enhancers	Fetal Intestine Small	intestine
3	chr9:15391400-15400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links