Variant report

Variant	esv2761147
Chromosome Location	chr7:13164361-13174178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 378 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:378 , 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	rs570363851	chr7:13164365-13164366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7777803	chr7:13164382-13164383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185161042	chr7:13164399-13164400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116376192	chr7:13164409-13164410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11980686	chr7:13164416-13164417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77937520	chr7:13164436-13164437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78801632	chr7:13164440-13164441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535682226	chr7:13164449-13164450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2215225	chr7:13164463-13164464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141572417	chr7:13164467-13164468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534904582	chr7:13164493-13164494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377125331	chr7:13164495-13164496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111738178	chr7:13164519-13164520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537692957	chr7:13164526-13164527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577170315	chr7:13164534-13164535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7777981	chr7:13164545-13164546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562854996	chr7:13164554-13164555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78160368	chr7:13164564-13164565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75505244	chr7:13164565-13164566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7777989	chr7:13164567-13164568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189819285	chr7:13164580-13164581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561939850	chr7:13164584-13164585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527841247	chr7:13164607-13164608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547780646	chr7:13164609-13164610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76240435	chr7:13164625-13164626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182149216	chr7:13164640-13164641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554899466	chr7:13164649-13164650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571708525	chr7:13164656-13164657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549734506	chr7:13164668-13164669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569796489	chr7:13164707-13164708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570867147	chr7:13164709-13164710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34939733	chr7:13164716-13164717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549239981	chr7:13164727-13164728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143341862	chr7:13164745-13164746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10950439	chr7:13164769-13164770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs368369679	chr7:13164805-13164806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10950440	chr7:13164811-13164812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577832654	chr7:13164828-13164829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189218764	chr7:13164861-13164862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138993126	chr7:13164906-13164907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193091093	chr7:13164921-13164922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183681859	chr7:13164937-13164938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188206423	chr7:13164954-13164955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561800722	chr7:13164957-13164958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192939757	chr7:13164968-13164969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541580727	chr7:13165020-13165021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549218790	chr7:13165037-13165038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140710791	chr7:13165095-13165096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184283105	chr7:13165121-13165122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538160510	chr7:13165138-13165139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	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
Glioblastoma multiforme	17002787	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13163800-13171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:13166000-13166200	Enhancers	HepG2	liver
3	chr7:13167400-13168000	Enhancers	Fetal Stomach	stomach

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