Variant report

Variant	esv3373522
Chromosome Location	chr14:70293699-70297897
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	chr14:70294846..70296359-chr14:70304278..70306055,2	K562	blood:

Extended variants
information (count: 188 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs537589311	chr14:70293705-70293706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551887793	chr14:70293760-70293761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556186124	chr14:70293781-70293782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188511902	chr14:70293807-70293808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537096385	chr14:70293808-70293809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191969420	chr14:70293813-70293814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183650454	chr14:70293937-70293938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535374756	chr14:70294051-70294052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144554313	chr14:70294079-70294080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61982157	chr14:70294085-70294086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553654769	chr14:70294089-70294090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61982158	chr14:70294093-70294094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61982159	chr14:70294099-70294100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61983460	chr14:70294106-70294107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58192380	chr14:70294107-70294108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7494571	chr14:70294108-70294109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554076929	chr14:70294150-70294151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113651774	chr14:70294156-70294157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375602147	chr14:70294157-70294158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545563735	chr14:70294211-70294212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75114194	chr14:70294216-70294217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4293310	chr14:70294272-70294273	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191837735	chr14:70294285-70294286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4508369	chr14:70294325-70294326	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115869391	chr14:70294347-70294348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184956980	chr14:70294372-70294373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141631532	chr14:70294414-70294415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531831414	chr14:70294466-70294467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147053018	chr14:70294468-70294469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76356011	chr14:70294541-70294542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150427973	chr14:70294552-70294553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147699051	chr14:70294658-70294659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570087123	chr14:70294667-70294668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61983461	chr14:70294719-70294720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114590394	chr14:70294734-70294735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567343113	chr14:70294759-70294760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555962970	chr14:70294770-70294771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574789538	chr14:70294786-70294787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111982678	chr14:70294788-70294789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535340450	chr14:70294862-70294863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535955201	chr14:70294888-70294889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533491610	chr14:70294911-70294912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142489021	chr14:70294917-70294918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181882047	chr14:70294923-70294924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72725780	chr14:70294924-70294925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372244219	chr14:70295063-70295064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185396579	chr14:70295070-70295071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537165436	chr14:70295112-70295113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555380020	chr14:70295118-70295119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573713593	chr14:70295166-70295167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70293600-70293800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:70293600-70294200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:70293600-70295400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:70293600-70295400	Enhancers	NHEK	skin
5	chr14:70293800-70295000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:70294200-70294400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:70294200-70295200	Enhancers	HMEC	breast
8	chr14:70294200-70295400	Enhancers	Hela-S3	cervix
9	chr14:70294400-70299400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:70295000-70295400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:70295000-70295400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:70295200-70295800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70295600-70295800	Active TSS	Fetal Lung	lung
14	chr14:70295600-70296000	ZNF genes & repeats	Fetal Kidney	kidney
15	chr14:70295800-70296000	Bivalent/Poised TSS	Fetal Lung	lung
16	chr14:70295800-70306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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