Variant report

Variant	esv12807
Chromosome Location	chr9:14518139-14519477
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	chr9:14514179..14519206-chr9:14523722..14526155,4	K562	blood:
2	chr9:14511289..14514140-chr9:14516209..14518705,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535853093	chr9:14518145-14518146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79993262	chr9:14518168-14518169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79480371	chr9:14518181-14518182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188901575	chr9:14518183-14518184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553135417	chr9:14518195-14518196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373292414	chr9:14518200-14518201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116516754	chr9:14518221-14518222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545070674	chr9:14518233-14518234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181642378	chr9:14518236-14518237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10756568	chr9:14518250-14518251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35973011	chr9:14518258-14518259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544269222	chr9:14518259-14518260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10810169	chr9:14518264-14518265	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10756569	chr9:14518282-14518283	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540470299	chr9:14518303-14518304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560357990	chr9:14518353-14518354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143218536	chr9:14518363-14518364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376330080	chr9:14518416-14518417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552258384	chr9:14518417-14518418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35196209	chr9:14518473-14518474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185624111	chr9:14518512-14518513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568771448	chr9:14518559-14518560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371047000	chr9:14518569-14518570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35150835	chr9:14518591-14518592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189736699	chr9:14518625-14518626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374726309	chr9:14518635-14518636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180866360	chr9:14518641-14518642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10756570	chr9:14518646-14518647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs873552	chr9:14518676-14518677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553172365	chr9:14518731-14518732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10810170	chr9:14518793-14518794	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146667295	chr9:14518809-14518810	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs10810171	chr9:14518824-14518825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575645351	chr9:14518828-14518829	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs873553	chr9:14518829-14518830	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs554648909	chr9:14518847-14518848	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139070159	chr9:14518862-14518863	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs574975581	chr9:14518901-14518902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540508981	chr9:14518912-14518913	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs377097098	chr9:14518962-14518963	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7851867	chr9:14518985-14518986	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532306992	chr9:14518996-14518997	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs555846613	chr9:14518997-14518998	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562649529	chr9:14519059-14519060	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1887577	chr9:14519091-14519092	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548183777	chr9:14519119-14519120	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567690630	chr9:14519136-14519137	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7854892	chr9:14519160-14519161	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546847782	chr9:14519168-14519169	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2382475	chr9:14519170-14519171	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14515200-14518400	Enhancers	Fetal Muscle Leg	muscle
2	chr9:14515400-14519000	Enhancers	Brain Germinal Matrix	brain
3	chr9:14516200-14521000	Weak transcription	Psoas Muscle	Psoas
4	chr9:14516400-14518800	Enhancers	HSMMtube	muscle
5	chr9:14516400-14519800	Enhancers	K562	blood
6	chr9:14516600-14520400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:14517200-14519000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:14517600-14519200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:14517600-14520200	Weak transcription	HSMM	muscle
10	chr9:14517800-14520400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:14517800-14520800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:14518800-14519400	Flanking Active TSS	HSMMtube	muscle
13	chr9:14519000-14520600	Weak transcription	Brain Germinal Matrix	brain
14	chr9:14519200-14519400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:14519400-14520800	Active TSS	HSMMtube	muscle

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