Variant report

Variant	esv275166
Chromosome Location	chr7:39077397-39081494
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	chr7:39068242..39069877-chr7:39078020..39079594,2	K562	blood:
2	chr7:39077523..39079724-chr7:39083023..39084974,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10248136	chr7:39077397-39077398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147377434	chr7:39077405-39077406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10277485	chr7:39077426-39077427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557663268	chr7:39077466-39077467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577554330	chr7:39077483-39077484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375630270	chr7:39077493-39077494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543410701	chr7:39077528-39077529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139587876	chr7:39077551-39077552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530570935	chr7:39077568-39077569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192181013	chr7:39077633-39077634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182018158	chr7:39077640-39077641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562245869	chr7:39077665-39077666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527922904	chr7:39077666-39077667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551340614	chr7:39077709-39077710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111452905	chr7:39077731-39077732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548101308	chr7:39077802-39077803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187617693	chr7:39077823-39077824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112952943	chr7:39077837-39077838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550158174	chr7:39077874-39077875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533635754	chr7:39077910-39077911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570018033	chr7:39077913-39077914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535967257	chr7:39077950-39077951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564740827	chr7:39077959-39077960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145148384	chr7:39077966-39077967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144879220	chr7:39077970-39077971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534545427	chr7:39077993-39077994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546902486	chr7:39078006-39078007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547296279	chr7:39078028-39078029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200559866	chr7:39078050-39078051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191547612	chr7:39078085-39078086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577879798	chr7:39078124-39078125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183054441	chr7:39078229-39078230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186838756	chr7:39078230-39078231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149034037	chr7:39078249-39078250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142198203	chr7:39078266-39078267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190163363	chr7:39078317-39078318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527886041	chr7:39078345-39078346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541646460	chr7:39078462-39078463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564582127	chr7:39078528-39078529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115395529	chr7:39078550-39078551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568627706	chr7:39078565-39078566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10230554	chr7:39078569-39078570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182110954	chr7:39078606-39078607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151233330	chr7:39078608-39078609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140341174	chr7:39078632-39078633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568909048	chr7:39078664-39078665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368879734	chr7:39078721-39078722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565880808	chr7:39078789-39078790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76818358	chr7:39078836-39078837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4144723	chr7:39078888-39078889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39072400-39083200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:39075800-39078600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:39078400-39078600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:39078600-39079000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:39078600-39082400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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