Variant report

Variant	esv2763620
Chromosome Location	chr7:11772783-11776485
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	chr7:11776469..11779139-chr7:11790572..11792630,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005108	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17165101	chr7:11772783-11772784	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535921241	chr7:11772793-11772794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555545898	chr7:11772795-11772796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191996801	chr7:11772802-11772803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2355075	chr7:11772818-11772819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184447362	chr7:11772819-11772820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553697953	chr7:11772874-11772875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2883590	chr7:11772900-11772901	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539082663	chr7:11772923-11772924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555719771	chr7:11773012-11773013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551649368	chr7:11773018-11773019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570123760	chr7:11773041-11773042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575921510	chr7:11773068-11773069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539001187	chr7:11773070-11773071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114429954	chr7:11773072-11773073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572600693	chr7:11773105-11773106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541260207	chr7:11773112-11773113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117174654	chr7:11773132-11773133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570361024	chr7:11773138-11773139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535188448	chr7:11773177-11773178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10261703	chr7:11773244-11773245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78766296	chr7:11773250-11773251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146376666	chr7:11773312-11773313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537261766	chr7:11773361-11773362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4719283	chr7:11773374-11773375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs566038522	chr7:11773383-11773384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534035127	chr7:11773443-11773444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188988175	chr7:11773505-11773506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547175883	chr7:11773515-11773516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12537741	chr7:11773517-11773518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs115177218	chr7:11773571-11773572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192853817	chr7:11773598-11773599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558514120	chr7:11773607-11773608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556007720	chr7:11773625-11773626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575996359	chr7:11773643-11773644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138984689	chr7:11773649-11773650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555483067	chr7:11773663-11773664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10950365	chr7:11773695-11773696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184773817	chr7:11773739-11773740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564646922	chr7:11773742-11773743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189304153	chr7:11773766-11773767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556104668	chr7:11773780-11773781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576255216	chr7:11773785-11773786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11984064	chr7:11773800-11773801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs564892816	chr7:11773850-11773851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577388461	chr7:11773873-11773874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1526540	chr7:11773901-11773902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114747967	chr7:11773912-11773913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375988958	chr7:11773935-11773936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549100058	chr7:11773969-11773970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Rett syndrome	21593744	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11768000-11782000	Weak transcription	Fetal Lung	lung
2	chr7:11772000-11775200	Enhancers	A549	lung
3	chr7:11772200-11773400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:11775200-11782200	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links