Variant report

Variant	esv275114
Chromosome Location	chr7:13316095-13318012
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	chr7:13317591..13319993-chr7:15056107..15057980,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13316359-13316473	NONHSAT119248

Extended variants
information (count: 72 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184929420	chr7:13316367-13316368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs187733924	chr7:13316372-13316373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs192235623	chr7:13316374-13316375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs139893235	chr7:13316383-13316384	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs6461020	chr7:13316411-13316412	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575075145	chr7:13316420-13316421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs11769225	chr7:13316436-13316437	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184434157	chr7:13316454-13316455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs573805788	chr7:13316462-13316463	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs542607911	chr7:13316472-13316473	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs148582469	chr7:13316807-13316808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576014107	chr7:13316856-13316857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186322945	chr7:13316883-13316884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74205032	chr7:13316884-13316885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530266799	chr7:13316888-13316889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77832279	chr7:13316908-13316909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190775567	chr7:13316941-13316942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144526339	chr7:13316957-13316958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181809052	chr7:13316962-13316963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552711485	chr7:13316964-13316965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568763966	chr7:13316984-13316985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531521932	chr7:13316990-13316991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569224790	chr7:13317000-13317001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186003979	chr7:13317009-13317010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191543514	chr7:13317015-13317016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35242488	chr7:13317040-13317041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114233243	chr7:13317047-13317048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553427118	chr7:13317059-13317060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142425697	chr7:13317068-13317069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566889262	chr7:13317084-13317085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183458539	chr7:13317090-13317091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187800454	chr7:13317133-13317134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575977502	chr7:13317145-13317146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146657254	chr7:13317156-13317157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555330843	chr7:13317158-13317159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574974569	chr7:13317162-13317163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140238568	chr7:13317223-13317224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79857981	chr7:13317228-13317229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145286440	chr7:13317234-13317235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191076111	chr7:13317235-13317236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562160033	chr7:13317285-13317286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568766875	chr7:13317294-13317295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548057990	chr7:13317296-13317297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11980093	chr7:13317315-13317316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs527470278	chr7:13317323-13317324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547280645	chr7:13317325-13317326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182149830	chr7:13317372-13317373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371528991	chr7:13317409-13317410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566932819	chr7:13317420-13317421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554387119	chr7:13317460-13317461	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13316800-13318000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:13317200-13318000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:13317600-13318000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:13317800-13318000	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood

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