Variant report

Variant	esv3388174
Chromosome Location	chr7:14348761-14369819
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	chr7:14363416..14366270-chr7:14373533..14375322,2	K562	blood:

Extended variants
information (count: 365 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112054886	chr7:14352623-14352624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571476614	chr7:14352640-14352641	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530684789	chr7:14352705-14352706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs141327271	chr7:14352709-14352710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566953791	chr7:14352718-14352719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184222565	chr7:14352731-14352732	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143839381	chr7:14352739-14352740	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35689654	chr7:14352767-14352768	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566521321	chr7:14352827-14352828	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534908800	chr7:14352880-14352881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558302722	chr7:14352882-14352883	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201515519	chr7:14352883-14352884	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537774678	chr7:14352884-14352885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs6461083	chr7:14352885-14352886	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190769577	chr7:14352894-14352895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs543031666	chr7:14352906-14352907	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559598889	chr7:14352914-14352915	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146878186	chr7:14352921-14352922	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140733792	chr7:14352922-14352923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565125356	chr7:14352939-14352940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533304708	chr7:14352944-14352945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6461084	chr7:14352945-14352946	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529650929	chr7:14352947-14352948	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs546528935	chr7:14352948-14352949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566466304	chr7:14352956-14352957	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538692251	chr7:14352957-14352958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs373302411	chr7:14352958-14352959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377325484	chr7:14352960-14352961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs6461085	chr7:14352971-14352972	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571897625	chr7:14352988-14352989	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557705347	chr7:14358431-14358432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571022852	chr7:14358444-14358445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536782507	chr7:14358456-14358457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188368515	chr7:14358462-14358463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576272361	chr7:14358463-14358464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530285088	chr7:14358475-14358476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555790852	chr7:14358476-14358477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111787746	chr7:14358487-14358488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192653589	chr7:14358500-14358501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564507653	chr7:14358503-14358504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536938085	chr7:14358521-14358522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543981473	chr7:14358554-14358555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372139540	chr7:14358562-14358563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184641397	chr7:14358575-14358576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529085840	chr7:14358587-14358588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369277954	chr7:14358595-14358596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549114856	chr7:14358627-14358628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4404823	chr7:14358653-14358654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528351420	chr7:14358655-14358656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551244118	chr7:14358702-14358703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14352600-14353000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:14352600-14353000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:14352600-14353000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:14358400-14361800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:14361800-14362000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:14366400-14366600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:14366600-14367400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:14366800-14371800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:14368000-14368800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:14368200-14368800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:14368200-14369000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:14368200-14369000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:14368400-14368800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:14368400-14369000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:14368800-14371800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:14368800-14375600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:14368800-14379000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links