Variant report

Variant	esv3375849
Chromosome Location	chr14:84841699-84843697
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	chr14:84843657..84844191-chr5:72572440..72573200,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564301578	chr14:84841704-84841705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528799798	chr14:84841716-84841717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540543655	chr14:84841740-84841741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80082408	chr14:84841743-84841744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534081464	chr14:84841786-84841787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528867286	chr14:84841803-84841804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558582475	chr14:84841846-84841847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372696993	chr14:84841863-84841864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530534010	chr14:84841883-84841884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550692550	chr14:84841912-84841913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61984240	chr14:84841975-84841976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533012742	chr14:84841997-84841998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551618119	chr14:84842034-84842035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77311508	chr14:84842066-84842067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5810182	chr14:84842124-84842125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117048141	chr14:84842203-84842204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555357646	chr14:84842215-84842216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139442414	chr14:84842225-84842226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149677915	chr14:84842237-84842238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556886832	chr14:84842250-84842251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77499782	chr14:84842253-84842254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545860954	chr14:84842362-84842363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557954285	chr14:84842364-84842365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573337353	chr14:84842365-84842366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11627777	chr14:84842385-84842386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs118026852	chr14:84842398-84842399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562236377	chr14:84842427-84842428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11627812	chr14:84842435-84842436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11376687	chr14:84842447-84842448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397778052	chr14:84842448-84842449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71110979	chr14:84842590-84842591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181439422	chr14:84842645-84842646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145865635	chr14:84842653-84842654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544230713	chr14:84842661-84842662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376985471	chr14:84842662-84842663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533081262	chr14:84842665-84842666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568552310	chr14:84842689-84842690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61984241	chr14:84842762-84842763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186065584	chr14:84842900-84842901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117905961	chr14:84842964-84842965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201305848	chr14:84843006-84843007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549304816	chr14:84843033-84843034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140731372	chr14:84843165-84843166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76100765	chr14:84843272-84843273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550579487	chr14:84843290-84843291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145776729	chr14:84843297-84843298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539575464	chr14:84843334-84843335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192027402	chr14:84843388-84843389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573426087	chr14:84843394-84843395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534129183	chr14:84843416-84843417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84839000-84843600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:84841200-84842200	Enhancers	HUVEC	blood vessel
3	chr14:84841200-84842400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:84841400-84842200	Enhancers	NH-A	brain
5	chr14:84841600-84842200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:84841600-84842200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:84841600-84842200	Enhancers	HSMMtube	muscle
8	chr14:84842200-84843200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:84842200-84845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:84842400-84843400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:84843200-84844800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:84843400-84843800	Enhancers	NHEK	skin
13	chr14:84843600-84843800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:84843600-84843800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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