Variant report

Variant	nsv522664
Chromosome Location	chr7:53876662-53878779
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	chr7:53870278..53873063-chr7:53876211..53878158,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531692599	chr7:53877204-53877205	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559184435	chr7:53877262-53877263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs142832268	chr7:53877264-53877265	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs527578627	chr7:53877267-53877268	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546249934	chr7:53877303-53877304	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564461234	chr7:53877323-53877324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs531860049	chr7:53877328-53877329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534726704	chr7:53877343-53877344	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548297226	chr7:53877365-53877366	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568643299	chr7:53877375-53877376	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200039358	chr7:53877376-53877377	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201131793	chr7:53877377-53877378	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs200974016	chr7:53877379-53877380	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201655698	chr7:53877384-53877385	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs112159028	chr7:53877388-53877389	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs66681695	chr7:53877389-53877390	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529427724	chr7:53877399-53877400	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199598108	chr7:53877446-53877447	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76984524	chr7:53877457-53877458	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566292176	chr7:53877458-53877459	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539728212	chr7:53877481-53877482	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558146141	chr7:53877566-53877567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182260843	chr7:53877599-53877600	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140976430	chr7:53877641-53877642	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555797144	chr7:53877689-53877690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs565295019	chr7:53877742-53877743	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs187310894	chr7:53877790-53877791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192426178	chr7:53877813-53877814	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114938644	chr7:53877824-53877825	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200508545	chr7:53877859-53877860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs551057353	chr7:53877874-53877875	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372916453	chr7:53877875-53877876	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs182526080	chr7:53877878-53877879	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147919239	chr7:53877904-53877905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs58475594	chr7:53877908-53877909	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186957546	chr7:53877912-53877913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576459501	chr7:53877925-53877926	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370083500	chr7:53877933-53877934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190241271	chr7:53877954-53877955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs111303960	chr7:53877960-53877961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182695021	chr7:53877961-53877962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs374309112	chr7:53877966-53877967	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562083512	chr7:53878007-53878008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529386735	chr7:53878018-53878019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547708627	chr7:53878106-53878107	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs367889483	chr7:53878151-53878152	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs76419555	chr7:53878189-53878190	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575038507	chr7:53878190-53878191	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs7793238	chr7:53878224-53878225	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551611234	chr7:53878230-53878231	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21525872	CNVD
Lung cancer	21569311	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53877200-53880200	Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links