Variant report

Variant	esv3449205
Chromosome Location	chr14:69483749-69485647
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	chr14:69479524..69481423-chr14:69483176..69484948,2	K562	blood:
2	chr14:69483409..69485668-chr14:69495105..69496643,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58296488	chr14:69483749-69483750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571912878	chr14:69483779-69483780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71423341	chr14:69483809-69483810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375780471	chr14:69483863-69483864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368938407	chr14:69483900-69483901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563930576	chr14:69483935-69483936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186824545	chr14:69483970-69483971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549787060	chr14:69483976-69483977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113815152	chr14:69484011-69484012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10148688	chr14:69484028-69484029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538885128	chr14:69484036-69484037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58496782	chr14:69484046-69484047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs56663234	chr14:69484070-69484071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190700796	chr14:69484101-69484102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57348946	chr14:69484125-69484126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200902331	chr14:69484138-69484139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552042010	chr14:69484145-69484146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547672495	chr14:69484185-69484186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72718240	chr14:69484252-69484253	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537776149	chr14:69484321-69484322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555755782	chr14:69484369-69484370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144952673	chr14:69484433-69484434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573993150	chr14:69484517-69484518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534658753	chr14:69484519-69484520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552945634	chr14:69484520-69484521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71412307	chr14:69484526-69484527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183283984	chr14:69484531-69484532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58346876	chr14:69484582-69484583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12893107	chr14:69484611-69484612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11851308	chr14:69484664-69484665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577756184	chr14:69484671-69484672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567879279	chr14:69484727-69484728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545084537	chr14:69484819-69484820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373308675	chr14:69484834-69484835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376966696	chr14:69484841-69484842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72718241	chr14:69484845-69484846	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149077081	chr14:69484848-69484849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374252726	chr14:69484881-69484882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543717867	chr14:69484897-69484898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561797309	chr14:69484948-69484949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541271154	chr14:69485005-69485006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541071901	chr14:69485009-69485010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114298797	chr14:69485035-69485036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533092257	chr14:69485049-69485050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553013170	chr14:69485076-69485077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370564274	chr14:69485144-69485145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57855077	chr14:69485157-69485158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577731843	chr14:69485183-69485184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187813801	chr14:69485213-69485214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34975233	chr14:69485265-69485266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
2	chr14:69481000-69486000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:69481200-69484800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:69481400-69484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:69481800-69484800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:69481800-69484800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:69481800-69484800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:69481800-69485000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:69482000-69484200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:69482000-69484600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:69482000-69484800	Weak transcription	HepG2	liver
12	chr14:69482000-69485200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:69482400-69485200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:69483200-69485600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:69483400-69484000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:69483600-69483800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:69483600-69484800	Weak transcription	K562	blood
18	chr14:69484000-69485200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:69484200-69485400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:69484200-69485400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr14:69484600-69485200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr14:69484800-69485200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:69484800-69485200	Enhancers	HepG2	liver
24	chr14:69484800-69485400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:69484800-69485400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr14:69484800-69485400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr14:69484800-69485600	Enhancers	K562	blood
28	chr14:69485000-69485400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:69485000-69486200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:69485200-69485400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr14:69485200-69485400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:69485200-69485600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr14:69485400-69485800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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