Variant report

Variant	nsv819529
Chromosome Location	chr6:65711853-65718406
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	CEBPB	chr6:65714828-65715032	HepG2	liver:	n/a	chr6:65714880-65714891
2	CEBPB	chr6:65716700-65717039	HepG2	liver:	n/a	chr6:65716874-65716885
3	CEBPB	chr6:65714814-65714999	A549	lung:	n/a	chr6:65714880-65714891
4	CEBPB	chr6:65716699-65717038	H1-hESC	embryonic stem cell:	n/a	chr6:65716874-65716885
5	CTCF	chr6:65714280-65714430	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr6:65714320-65714470	HEK293	kidney:	n/a	n/a
7	CTCF	chr6:65714320-65714470	HepG2	liver:	n/a	n/a
8	MAFK	chr6:65712125-65712461	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000256352	TF binding region

Extended variants
information (count: 280 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533084871	chr6:65711869-65711870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546936586	chr6:65711874-65711875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566771587	chr6:65711895-65711896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183611506	chr6:65711896-65711897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372708643	chr6:65711912-65711913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145218519	chr6:65711925-65711926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538004993	chr6:65711936-65711937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199688320	chr6:65711947-65711948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200714920	chr6:65711948-65711949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199952358	chr6:65711949-65711950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201395768	chr6:65711950-65711951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66474536	chr6:65711951-65711952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200947982	chr6:65711952-65711953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5876934	chr6:65711954-65711955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199621365	chr6:65711955-65711956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558079584	chr6:65711964-65711965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578172291	chr6:65711977-65711978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540593892	chr6:65711992-65711993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116135434	chr6:65712023-65712024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367999574	chr6:65712032-65712033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74400560	chr6:65712076-65712077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547761230	chr6:65712154-65712155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79194392	chr6:65712160-65712161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80168702	chr6:65712199-65712200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575413224	chr6:65712219-65712220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs761834	chr6:65712263-65712264	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564140832	chr6:65712273-65712274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141471262	chr6:65712278-65712279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560926810	chr6:65712299-65712300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9363316	chr6:65712300-65712301	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs67276433	chr6:65712326-65712327	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2144713	chr6:65712361-65712362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148602293	chr6:65712381-65712382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560519948	chr6:65712435-65712436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548606077	chr6:65712447-65712448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548970925	chr6:65712508-65712509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189608099	chr6:65712518-65712519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537967226	chr6:65712548-65712549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9354200	chr6:65712566-65712567	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570792665	chr6:65712622-65712623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540104601	chr6:65712623-65712624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554208271	chr6:65712632-65712633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144472146	chr6:65712635-65712636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147856594	chr6:65712724-65712725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569787957	chr6:65712740-65712741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571035318	chr6:65712797-65712798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9363317	chr6:65712800-65712801	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34309150	chr6:65712813-65712814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368082601	chr6:65712824-65712825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575375544	chr6:65712826-65712827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65707000-65716000	Weak transcription	Pancreas	Pancrea
2	chr6:65708400-65712000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:65712000-65715000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:65716000-65716200	Enhancers	Pancreas	Pancrea
5	chr6:65716400-65716800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:65716400-65717000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:65716600-65717000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:65716600-65717000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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