Variant report

Variant	nsv1022136
Chromosome Location	chr7:53754123-53777221
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	chr7:53761755..53764043-chr7:53877913..53879807,2	K562	blood:
2	chr7:53776017..53777686-chr7:53778643..53780568,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205628	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185839954	chr7:53754185-53754186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141144417	chr7:53754189-53754190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150727094	chr7:53754251-53754252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527268893	chr7:53754253-53754254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552184297	chr7:53754260-53754261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570202412	chr7:53754272-53754273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73373803	chr7:53754279-53754280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555840290	chr7:53754285-53754286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567871968	chr7:53754305-53754306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139080764	chr7:53754312-53754313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553752876	chr7:53754325-53754326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574267602	chr7:53754332-53754333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572340908	chr7:53754343-53754344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73373805	chr7:53754375-53754376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149897285	chr7:53754394-53754395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78770260	chr7:53754412-53754413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571966900	chr7:53754471-53754472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545734891	chr7:53754537-53754538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543897455	chr7:53754548-53754549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549012842	chr7:53754611-53754612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376284562	chr7:53754641-53754642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145974137	chr7:53754744-53754745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34951438	chr7:53754771-53754772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552513964	chr7:53754782-53754783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567428239	chr7:53754842-53754843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377396005	chr7:53754867-53754868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529439378	chr7:53754899-53754900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34984816	chr7:53754912-53754913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189151467	chr7:53754964-53754965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537668289	chr7:53754966-53754967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192714720	chr7:53754986-53754987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533720662	chr7:53754988-53754989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551751927	chr7:53754992-53754993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370294653	chr7:53755005-53755006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79601975	chr7:53755018-53755019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550500551	chr7:53755019-53755020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577348601	chr7:53755062-53755063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184575399	chr7:53755131-53755132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139896525	chr7:53755170-53755171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547574869	chr7:53755237-53755238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547613446	chr7:53755241-53755242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565835069	chr7:53755254-53755255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539676054	chr7:53755272-53755273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558092849	chr7:53755287-53755288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576471755	chr7:53755320-53755321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74948519	chr7:53755335-53755336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35042556	chr7:53755438-53755439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574111115	chr7:53755469-53755470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146754055	chr7:53755479-53755480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73373807	chr7:53755513-53755514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Cognitive impairment	21505072	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53751800-53761400	Weak transcription	Aorta	Aorta

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