Variant report

Variant	nsv538851
Chromosome Location	chr7:53600769-53631566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC61G-5	chr7:53626907-53627111	XLOC_006446

Extended variants
information (count: 329 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568820882	chr7:53600782-53600783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373263863	chr7:53600808-53600809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188881160	chr7:53600812-53600813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532598689	chr7:53600816-53600817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554393845	chr7:53600820-53600821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138728592	chr7:53600825-53600826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115614668	chr7:53600841-53600842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143077584	chr7:53600889-53600890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541311798	chr7:53600932-53600933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577211806	chr7:53600960-53600961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181634213	chr7:53600978-53600979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566961534	chr7:53600996-53600997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369170832	chr7:53601000-53601001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534470377	chr7:53601019-53601020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562886299	chr7:53601044-53601045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116656919	chr7:53601066-53601067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542287992	chr7:53601071-53601072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186244833	chr7:53601081-53601082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527879150	chr7:53601113-53601114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559423491	chr7:53601128-53601129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552402643	chr7:53601152-53601153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564394437	chr7:53601205-53601206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35171094	chr7:53601207-53601208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2330531	chr7:53601275-53601276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548051216	chr7:53601298-53601299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191050167	chr7:53601302-53601303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115109323	chr7:53601345-53601346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73696615	chr7:53601376-53601377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548256846	chr7:53601395-53601396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566491100	chr7:53601417-53601418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533926634	chr7:53601474-53601475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558794311	chr7:53601542-53601543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563499976	chr7:53601552-53601553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs118163506	chr7:53601592-53601593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374031863	chr7:53601599-53601600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147476954	chr7:53601606-53601607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180681707	chr7:53601617-53601618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574761527	chr7:53601618-53601619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138424125	chr7:53601622-53601623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554237871	chr7:53601665-53601666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572452965	chr7:53601680-53601681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373857536	chr7:53601725-53601726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545950929	chr7:53601745-53601746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564358636	chr7:53601759-53601760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186037639	chr7:53601764-53601765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386713372	chr7:53601781-53601782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191283903	chr7:53601782-53601783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116463073	chr7:53601783-53601784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547877973	chr7:53601822-53601823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367999491	chr7:53601829-53601830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53598000-53605400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:53607800-53610000	Enhancers	Liver	Liver
3	chr7:53609400-53609800	Enhancers	Colon Smooth Muscle	Colon
4	chr7:53610400-53610800	Bivalent Enhancer	Fetal Brain Male	brain
5	chr7:53625600-53626000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:53625600-53626000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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