Variant report

Variant	esv275403
Chromosome Location	chr14:37551041-37556357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:37535319..37537304-chr14:37555545..37557530,2	K562	blood:
2	chr14:37548451..37550680-chr14:37552650..37555387,2	MCF-7	breast:
3	chr14:37543104..37544844-chr14:37552130..37554512,2	MCF-7	breast:

Extended variants
information (count: 181 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs8008478	chr14:37551041-37551042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556984331	chr14:37551055-37551056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189472803	chr14:37551087-37551088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs8010025	chr14:37551093-37551094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10132291	chr14:37551124-37551125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs8010065	chr14:37551155-37551156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76852799	chr14:37551181-37551182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561446434	chr14:37551207-37551208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530430582	chr14:37551228-37551229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79857314	chr14:37551305-37551306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149817902	chr14:37551345-37551346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78380690	chr14:37551353-37551354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373451596	chr14:37551367-37551368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112127935	chr14:37551386-37551387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533649480	chr14:37551444-37551445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535659438	chr14:37551477-37551478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs8009539	chr14:37551524-37551525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567105420	chr14:37551538-37551539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114094371	chr14:37551584-37551585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555900012	chr14:37551590-37551591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569294071	chr14:37551637-37551638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537867439	chr14:37551672-37551673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558102274	chr14:37551679-37551680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577933959	chr14:37551686-37551687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs8009729	chr14:37551700-37551701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375527580	chr14:37551715-37551716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552836783	chr14:37551770-37551771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572750607	chr14:37551775-37551776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7147703	chr14:37551800-37551801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6571781	chr14:37551808-37551809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575264893	chr14:37551883-37551884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6571782	chr14:37551936-37551937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144775321	chr14:37551948-37551949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532943623	chr14:37551977-37551978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373288698	chr14:37552048-37552049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180694581	chr14:37552059-37552060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140439117	chr14:37552093-37552094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529518793	chr14:37552162-37552163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183745833	chr14:37552222-37552223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569271365	chr14:37552413-37552414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538362343	chr14:37552417-37552418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188461566	chr14:37552431-37552432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532630217	chr14:37552448-37552449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117475448	chr14:37552532-37552533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545990845	chr14:37552572-37552573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552853124	chr14:37552597-37552598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572763061	chr14:37552636-37552637	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181216305	chr14:37552639-37552640	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144299313	chr14:37552713-37552714	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186494174	chr14:37552745-37552746	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Cancer	20164919	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37544400-37552200	Weak transcription	K562	blood
2	chr14:37549800-37552800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:37550200-37552000	Enhancers	Hela-S3	cervix
4	chr14:37550800-37551200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:37550800-37551800	Weak transcription	HMEC	breast
6	chr14:37551000-37551400	Weak transcription	NHEK	skin
7	chr14:37551200-37551800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:37551400-37552000	Enhancers	NHEK	skin
9	chr14:37551800-37552000	Enhancers	HMEC	breast
10	chr14:37552200-37552600	Enhancers	K562	blood
11	chr14:37552600-37553600	Flanking Active TSS	K562	blood
12	chr14:37552800-37553400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:37552800-37553600	Enhancers	Pancreas	Pancrea
14	chr14:37553200-37553400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:37553400-37562600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:37553600-37556400	Weak transcription	K562	blood
17	chr14:37553600-37557800	Weak transcription	Pancreas	Pancrea

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