Variant report

Variant	nsv818419
Chromosome Location	chr6:63160790-63173293
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	chr6:63165587-63165869	IMR90	lung:	n/a	n/a
2	POLR2A	chr6:63171954-63172063	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:63170506-63170510	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr6:63166444-63166474	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:63162919-63163315	MCF10A-Er-Src	breast:	n/a	n/a
6	RFX5	chr6:63162749-63162800	K562	blood:	n/a	n/a
7	SPI1	chr6:63162510-63162795	GM12878	blood:	n/a	n/a
8	SPI1	chr6:63162518-63162861	GM12891	blood:	n/a	n/a
9	SPI1	chr6:63162571-63162799	GM12891	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KHDRBS2-2	chr6:63170845-63171408	NONHSAT113333

Variant related genes	Relation type
ENSG00000216859	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16885317	chr6:63166308-63166309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576198110	chr6:63166327-63166328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377029553	chr6:63166328-63166329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542885877	chr6:63166367-63166368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554613801	chr6:63166372-63166373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139408170	chr6:63166394-63166395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113540078	chr6:63166415-63166416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79199195	chr6:63166429-63166430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12529831	chr6:63166434-63166435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532182104	chr6:63166452-63166453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374184015	chr6:63166478-63166479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559425344	chr6:63166483-63166484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529866368	chr6:63166498-63166499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548108337	chr6:63166534-63166535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185756666	chr6:63166541-63166542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531702535	chr6:63166569-63166570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189725987	chr6:63166590-63166591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549903076	chr6:63166592-63166593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571304590	chr6:63166600-63166601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77578681	chr6:63170887-63170888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs527247539	chr6:63170906-63170907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs115641566	chr6:63170918-63170919	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs554141414	chr6:63170963-63170964	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs371439185	chr6:63170971-63170972	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs561119697	chr6:63170976-63170977	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs578086026	chr6:63171014-63171015	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs531646097	chr6:63171038-63171039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs550138435	chr6:63171044-63171045	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs74315849	chr6:63171049-63171050	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs565940071	chr6:63171059-63171060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs17381471	chr6:63171060-63171061	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563971314	chr6:63171065-63171066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551835818	chr6:63171094-63171095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs192741681	chr6:63171110-63171111	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs534166609	chr6:63171114-63171115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs555488817	chr6:63171123-63171124	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs185431953	chr6:63171152-63171153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs538148299	chr6:63171161-63171162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs531130070	chr6:63171234-63171235	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs62414735	chr6:63171271-63171272	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs78509964	chr6:63171313-63171314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs62414736	chr6:63171331-63171332	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs367961023	chr6:63171350-63171351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs117233418	chr6:63171352-63171353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs572050598	chr6:63171379-63171380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs151284493	chr6:63171380-63171381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs139303862	chr6:63171398-63171399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs187997143	chr6:63171405-63171406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs527776639	chr6:63171970-63171971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs549114096	chr6:63171981-63171982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Acute lymphoblastic leukemia	20435627	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
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63166200-63166600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links