Variant report

Variant	esv3438965
Chromosome Location	chr9:84825032-84829430
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	chr9:84817379..84819303-chr9:84823332..84825500,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538572299	chr9:84825068-84825069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575652919	chr9:84825145-84825146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536759130	chr9:84825185-84825186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189593402	chr9:84825220-84825221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573253265	chr9:84825226-84825227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540663584	chr9:84825232-84825233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369584346	chr9:84825234-84825235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565563366	chr9:84825254-84825255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2767709	chr9:84825269-84825270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10125973	chr9:84825292-84825293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12555911	chr9:84825324-84825325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532606312	chr9:84825367-84825368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571297320	chr9:84825426-84825427	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs80187817	chr9:84825450-84825451	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs529704214	chr9:84825474-84825475	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369014589	chr9:84825507-84825508	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112451359	chr9:84825528-84825529	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs116689472	chr9:84825547-84825548	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75392875	chr9:84825555-84825556	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527284279	chr9:84825588-84825589	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs80265901	chr9:84825636-84825637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570681736	chr9:84825638-84825639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139469389	chr9:84825693-84825694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549914149	chr9:84825703-84825704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568284187	chr9:84825709-84825710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573680321	chr9:84825731-84825732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564764857	chr9:84825839-84825840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144935740	chr9:84825842-84825843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112897957	chr9:84825845-84825846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149068239	chr9:84825846-84825847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79039051	chr9:84825893-84825894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577423719	chr9:84825898-84825899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544592374	chr9:84825905-84825906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556687122	chr9:84825938-84825939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574668572	chr9:84825939-84825940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12003993	chr9:84825940-84825941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559814807	chr9:84825960-84825961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527391223	chr9:84825995-84825996	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84823800-84825800	Enhancers	HMEC	breast
2	chr9:84824000-84825800	Enhancers	Osteobl	bone
3	chr9:84824600-84825600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:84824600-84825800	Enhancers	Primary B cells from cord blood	blood
5	chr9:84824800-84825800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:84824800-84826000	Enhancers	Primary B cells from peripheral blood	blood
7	chr9:84825000-84825400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:84825400-84825600	ZNF genes & repeats	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links