Variant report

Variant	esv3358308
Chromosome Location	chr14:70004056-70005786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192119495	chr14:70004083-70004084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371739023	chr14:70004093-70004094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551637024	chr14:70004241-70004242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183878949	chr14:70004252-70004253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537212909	chr14:70004322-70004323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186064097	chr14:70004383-70004384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140541747	chr14:70004404-70004405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150463283	chr14:70004515-70004516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535129096	chr14:70004524-70004525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532542758	chr14:70004543-70004544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553232185	chr14:70004585-70004586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189863674	chr14:70004631-70004632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545449968	chr14:70004651-70004652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564360083	chr14:70004713-70004714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182466971	chr14:70004770-70004771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56277435	chr14:70004783-70004784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78546016	chr14:70004812-70004813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138283493	chr14:70004823-70004824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114269316	chr14:70004831-70004832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187137494	chr14:70004849-70004850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368512546	chr14:70004865-70004866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541456850	chr14:70004912-70004913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139296288	chr14:70004914-70004915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61262698	chr14:70004932-70004933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34111107	chr14:70004933-70004934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201083773	chr14:70004951-70004952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201596566	chr14:70004952-70004953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569984864	chr14:70004958-70004959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149631465	chr14:70004981-70004982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146906942	chr14:70004995-70004996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370126063	chr14:70005012-70005013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567838678	chr14:70005030-70005031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534953241	chr14:70005074-70005075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372414352	chr14:70005087-70005088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191785038	chr14:70005088-70005089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569378775	chr14:70005094-70005095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137857380	chr14:70005128-70005129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7144385	chr14:70005213-70005214	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183542610	chr14:70005242-70005243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543689824	chr14:70005272-70005273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555419160	chr14:70005279-70005280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200058363	chr14:70005292-70005293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573755713	chr14:70005296-70005297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540903020	chr14:70005297-70005298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201034709	chr14:70005300-70005301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558989798	chr14:70005354-70005355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532883784	chr14:70005368-70005369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544557087	chr14:70005374-70005375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548445405	chr14:70005401-70005402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539813424	chr14:70005442-70005443	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	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
Ovine squamous-cell carcinoma	17599052	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70002400-70004200	Weak transcription	Stomach Mucosa	stomach
2	chr14:70002400-70007000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:70002400-70014600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:70002600-70006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:70003600-70004600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr14:70003600-70005400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:70003800-70005600	Enhancers	Hela-S3	cervix
8	chr14:70004200-70004400	Enhancers	Stomach Mucosa	stomach
9	chr14:70004400-70004600	Enhancers	Esophagus	oesophagus
10	chr14:70004400-70004800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:70004400-70004800	Weak transcription	Stomach Mucosa	stomach
12	chr14:70004600-70005200	Weak transcription	Placenta	Placenta
13	chr14:70004600-70006200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:70004800-70005200	Enhancers	Stomach Mucosa	stomach
15	chr14:70004800-70010000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:70005600-70007000	Weak transcription	Hela-S3	cervix

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