Variant report

Variant	nsv538843
Chromosome Location	chr7:52843839-52861332
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	chr7:52835741..52838308-chr7:52843283..52845987,2	K562	blood:
2	chr7:52737899..52740612-chr7:52858585..52861184,2	K562	blood:

Extended variants
information (count: 726 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566313924	chr7:52843859-52843860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369645166	chr7:52843862-52843863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568237975	chr7:52843867-52843868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74341079	chr7:52843911-52843912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557063251	chr7:52843944-52843945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115687077	chr7:52843956-52843957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2965503	chr7:52843970-52843971	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2913023	chr7:52843980-52843981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572796534	chr7:52844032-52844033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541700110	chr7:52844073-52844074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561435450	chr7:52844089-52844090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370603344	chr7:52844105-52844106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1406531	chr7:52844124-52844125	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2965504	chr7:52844144-52844145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532455652	chr7:52844221-52844222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552281997	chr7:52844232-52844233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565735484	chr7:52844248-52844249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377389940	chr7:52844293-52844294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2965505	chr7:52844295-52844296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140202757	chr7:52844301-52844302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376049412	chr7:52844309-52844310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190578961	chr7:52844316-52844317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182821252	chr7:52844328-52844329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114641488	chr7:52844345-52844346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530492504	chr7:52844355-52844356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143980727	chr7:52844375-52844376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78525554	chr7:52844382-52844383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370817237	chr7:52844409-52844410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375038088	chr7:52844472-52844473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368192952	chr7:52844473-52844474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535109665	chr7:52844499-52844500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371620459	chr7:52844518-52844519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575049378	chr7:52844521-52844522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150517497	chr7:52844537-52844538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577276254	chr7:52844555-52844556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185709524	chr7:52844557-52844558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139501532	chr7:52844613-52844614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545885343	chr7:52844617-52844618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111687060	chr7:52844618-52844619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113649785	chr7:52844675-52844676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148875656	chr7:52844677-52844678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75029441	chr7:52844680-52844681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145266419	chr7:52844681-52844682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201128625	chr7:52844759-52844760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570649859	chr7:52844773-52844774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553056132	chr7:52844781-52844782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73357988	chr7:52844805-52844806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111265460	chr7:52844844-52844845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73357989	chr7:52844845-52844846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147636397	chr7:52844859-52844860	Weak transcription	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
Gastrointestinal stromal cancer	20877625	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
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:52841800-52844200	Enhancers	HUVEC	blood vessel
2	chr7:52843200-52844000	Enhancers	Rectal Smooth Muscle	rectum
3	chr7:52843600-52844200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:52844000-52849200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:52846200-52846600	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr7:52847000-52847400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:52847400-52849400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:52849200-52849400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:52849200-52849800	Enhancers	Colon Smooth Muscle	Colon
10	chr7:52849200-52851000	Enhancers	Rectal Smooth Muscle	rectum
11	chr7:52849400-52849600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:52849400-52849600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:52849600-52849800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr7:52849800-52857200	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:52850800-52851200	Enhancers	Pancreas	Pancrea
16	chr7:52851000-52851400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:52851400-52851600	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:52851600-52856400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:52856400-52856600	Enhancers	Rectal Smooth Muscle	rectum
20	chr7:52856600-52857000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:52857000-52857600	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:52857200-52858000	Enhancers	Colon Smooth Muscle	Colon
23	chr7:52857600-52859000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:52858000-52859000	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:52859000-52859200	Enhancers	Colon Smooth Muscle	Colon
26	chr7:52859000-52859200	Enhancers	Rectal Smooth Muscle	rectum
27	chr7:52859200-52859600	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:52859200-52859600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:52859600-52860000	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:52859600-52860200	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links