Variant report

Variant	esv2762820
Chromosome Location	chr9:86214615-86220040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:86218000-86218150	Caco-2	colon:	n/a	n/a
2	GATA3	chr9:86218831-86218995	SH-SY5Y	brain:	n/a	n/a
3	JUND	chr9:86219684-86219723	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr9:86219772-86219778	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86215991..86217678-chr9:86226760..86228301,2	MCF-7	breast:
2	chr9:86213623..86215956-chr9:86235876..86238366,2	K562	blood:

Variant related genes	Relation type
RNU4-15P	TF binding region
ENSG00000148057	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs2780987	chr9:86214615-86214616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75646036	chr9:86214634-86214635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201677490	chr9:86214691-86214692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572614507	chr9:86214715-86214716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562090229	chr9:86214730-86214731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117575373	chr9:86214826-86214827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12683904	chr9:86214830-86214831	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371568922	chr9:86214845-86214846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538875590	chr9:86214848-86214849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576176324	chr9:86214859-86214860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554960744	chr9:86214861-86214862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191863418	chr9:86214863-86214864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181493006	chr9:86214883-86214884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529107930	chr9:86214930-86214931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149358404	chr9:86214983-86214984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143701519	chr9:86215015-86215016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148124963	chr9:86215124-86215125	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551445114	chr9:86215195-86215196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544821566	chr9:86215205-86215206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569662361	chr9:86215225-86215226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537175230	chr9:86215229-86215230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549074690	chr9:86215312-86215313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141944308	chr9:86215325-86215326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533014599	chr9:86215411-86215412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536060410	chr9:86215427-86215428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554031614	chr9:86215454-86215455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572700766	chr9:86215470-86215471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147287392	chr9:86215474-86215475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62559838	chr9:86215578-86215579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2780986	chr9:86215583-86215584	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560145326	chr9:86215595-86215596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186716722	chr9:86215651-86215652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543384964	chr9:86215745-86215746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562227371	chr9:86215810-86215811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574011005	chr9:86215861-86215862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372539215	chr9:86215934-86215935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541226469	chr9:86215939-86215940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10113885	chr9:86216008-86216009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs533309455	chr9:86216010-86216011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551689227	chr9:86216047-86216048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112015187	chr9:86216057-86216058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2811897	chr9:86216100-86216101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530539704	chr9:86216161-86216162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548666163	chr9:86216182-86216183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567362690	chr9:86216183-86216184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539546571	chr9:86216184-86216185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190105382	chr9:86216199-86216200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55989801	chr9:86216219-86216220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182300264	chr9:86216236-86216237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539773112	chr9:86216239-86216240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86188000-86215200	Weak transcription	Primary T cells from cord blood	blood
2	chr9:86198800-86217800	Weak transcription	Aorta	Aorta
3	chr9:86213000-86214800	Enhancers	HepG2	liver
4	chr9:86214600-86216200	Weak transcription	Fetal Intestine Large	intestine
5	chr9:86214800-86223400	Weak transcription	HepG2	liver
6	chr9:86216200-86216400	Enhancers	Fetal Intestine Large	intestine
7	chr9:86216200-86237400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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