Variant report

Variant	nsv8086
Chromosome Location	chr7:53449134-53452077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538962522	chr7:53449135-53449136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191941667	chr7:53449139-53449140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557291458	chr7:53449150-53449151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6951804	chr7:53449151-53449152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564169163	chr7:53449156-53449157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185089252	chr7:53449162-53449163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555424258	chr7:53449168-53449169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4947801	chr7:53449223-53449224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541192703	chr7:53449235-53449236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559600270	chr7:53449239-53449240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369228505	chr7:53449253-53449254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77043514	chr7:53449267-53449268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545323267	chr7:53449363-53449364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140342816	chr7:53449492-53449493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535123827	chr7:53449498-53449499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530926562	chr7:53449554-53449555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530457543	chr7:53449571-53449572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188801401	chr7:53449607-53449608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73363553	chr7:53449642-53449643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116837238	chr7:53449652-53449653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542109362	chr7:53449719-53449720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546757530	chr7:53449764-53449765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570022673	chr7:53449832-53449833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532621902	chr7:53449839-53449840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556873633	chr7:53449935-53449936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193036819	chr7:53449939-53449940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569482569	chr7:53449988-53449989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144254924	chr7:53449998-53449999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555090547	chr7:53450000-53450001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185690022	chr7:53450010-53450011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534714841	chr7:53450014-53450015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577255758	chr7:53450048-53450049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17135695	chr7:53450050-53450051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577906846	chr7:53450061-53450062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188029388	chr7:53450062-53450063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553213835	chr7:53450091-53450092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139629139	chr7:53450097-53450098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542256312	chr7:53450099-53450100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575479168	chr7:53450129-53450130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369872832	chr7:53450142-53450143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115469612	chr7:53450157-53450158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191330669	chr7:53450172-53450173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183732921	chr7:53450200-53450201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149936670	chr7:53450225-53450226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145015495	chr7:53450234-53450235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149107368	chr7:53450236-53450237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569504914	chr7:53450241-53450242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530342920	chr7:53450253-53450254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73363556	chr7:53450309-53450310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76512344	chr7:53450329-53450330	Weak transcription Enhancers	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
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53447600-53451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:53448000-53456600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:53450200-53451000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:53450800-53451400	Enhancers	Fetal Heart	heart
5	chr7:53451000-53451400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:53451000-53451400	Enhancers	HMEC	breast
7	chr7:53451200-53451400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links