Variant report

Variant	esv2114517
Chromosome Location	chr7:13110083-13110479
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	chr7:13105294..13107639-chr7:13110167..13112332,4	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552180438	chr7:13110084-13110085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568783792	chr7:13110089-13110090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531305133	chr7:13110092-13110093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10259296	chr7:13110097-13110098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548318162	chr7:13110104-13110105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10259299	chr7:13110105-13110106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527581117	chr7:13110118-13110119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28612180	chr7:13110121-13110122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374741077	chr7:13110140-13110141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534025821	chr7:13110145-13110146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143752584	chr7:13110146-13110147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538182747	chr7:13110147-13110148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146846142	chr7:13110152-13110153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547428082	chr7:13110170-13110171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201264321	chr7:13110173-13110174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200685081	chr7:13110175-13110176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539372283	chr7:13110176-13110177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201648946	chr7:13110178-13110179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150479161	chr7:13110189-13110190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569783109	chr7:13110194-13110195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575559458	chr7:13110197-13110198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191725702	chr7:13110203-13110204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183075329	chr7:13110204-13110205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187153046	chr7:13110213-13110214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538871354	chr7:13110218-13110219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544152338	chr7:13110221-13110222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190032754	chr7:13110224-13110225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182361917	chr7:13110227-13110228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552647168	chr7:13110229-13110230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186482420	chr7:13110230-13110231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574580505	chr7:13110231-13110232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193097291	chr7:13110233-13110234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185567230	chr7:13110234-13110235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188429618	chr7:13110235-13110236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28422948	chr7:13110236-13110237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185078675	chr7:13110239-13110240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188860539	chr7:13110242-13110243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201659134	chr7:13110243-13110244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200050133	chr7:13110245-13110246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370966590	chr7:13110247-13110248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200988046	chr7:13110250-13110251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28644353	chr7:13110253-13110254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540458496	chr7:13110259-13110260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28414486	chr7:13110260-13110261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560457164	chr7:13110263-13110264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559059491	chr7:13110270-13110271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368547163	chr7:13110272-13110273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28703680	chr7:13110273-13110274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546197507	chr7:13110276-13110277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553835889	chr7:13110278-13110279	Weak transcription Enhancers	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13107000-13117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:13109400-13112000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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