Variant report

Variant	esv3429599
Chromosome Location	chr7:53365208-53367806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567425640	chr7:53365208-53365209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55773349	chr7:53365210-53365211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542873167	chr7:53365234-53365235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556074416	chr7:53365296-53365297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6593078	chr7:53365317-53365318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs538349438	chr7:53365319-53365320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78863955	chr7:53365348-53365349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186933432	chr7:53365388-53365389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79322901	chr7:53365426-53365427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79866343	chr7:53365433-53365434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554478823	chr7:53365439-53365440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548524664	chr7:53365530-53365531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574250224	chr7:53365544-53365545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569799593	chr7:53365559-53365560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57475157	chr7:53365593-53365594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562941835	chr7:53365600-53365601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576678441	chr7:53365644-53365645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13310243	chr7:53365655-53365656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116447216	chr7:53365678-53365679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564634796	chr7:53365707-53365708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191017293	chr7:53365720-53365721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112715812	chr7:53365742-53365743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145451626	chr7:53365743-53365744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183508161	chr7:53365863-53365864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62453990	chr7:53365870-53365871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77951573	chr7:53365891-53365892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550003110	chr7:53365910-53365911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562468857	chr7:53365934-53365935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538414358	chr7:53366022-53366023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551888233	chr7:53366024-53366025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142389224	chr7:53366034-53366035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535019575	chr7:53366053-53366054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374733629	chr7:53366054-53366055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200773774	chr7:53366077-53366078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565417790	chr7:53366081-53366082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556315767	chr7:53366082-53366083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574737313	chr7:53366084-53366085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534364984	chr7:53366085-53366086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369943449	chr7:53366086-53366087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554261309	chr7:53366087-53366088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558298843	chr7:53366088-53366089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574337304	chr7:53366089-53366090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61119269	chr7:53366107-53366108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547388133	chr7:53366111-53366112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56050302	chr7:53366171-53366172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556778999	chr7:53366177-53366178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186740963	chr7:53366181-53366182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545594975	chr7:53366190-53366191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548840348	chr7:53366264-53366265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575404212	chr7:53366283-53366284	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53356000-53371200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:53367400-53367600	Enhancers	Gastric	stomach

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