Variant report

Variant	esv3530651
Chromosome Location	chr14:65604499-65609897
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	chr14:65600572..65603233-chr14:65606608..65608580,2	MCF-7	breast:
2	chr14:65600313..65602525-chr14:65607232..65610149,2	MCF-7	breast:

Extended variants
information (count: 227 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369238441	chr14:65604515-65604516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs574857986	chr14:65604549-65604550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs61457232	chr14:65604563-65604564	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533319481	chr14:65604581-65604582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs537452582	chr14:65604593-65604594	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144104269	chr14:65604602-65604603	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577311937	chr14:65604612-65604613	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540373233	chr14:65604718-65604719	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559670924	chr14:65604720-65604721	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs17102423	chr14:65604728-65604729	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
11	rs150528278	chr14:65604748-65604749	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183505847	chr14:65604790-65604791	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562391575	chr14:65604833-65604834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139531061	chr14:65604867-65604868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74438116	chr14:65604925-65604926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17093570	chr14:65604937-65604938	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533458628	chr14:65604982-65604983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112164178	chr14:65605007-65605008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549507126	chr14:65605008-65605009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547097001	chr14:65605013-65605014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570907190	chr14:65605016-65605017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79313383	chr14:65605017-65605018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55969418	chr14:65605021-65605022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550023860	chr14:65605029-65605030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548961598	chr14:65605048-65605049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570105881	chr14:65605073-65605074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568823113	chr14:65605079-65605080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537790396	chr14:65605098-65605099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79414106	chr14:65605140-65605141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112043677	chr14:65605150-65605151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4902366	chr14:65605163-65605164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553847938	chr14:65605171-65605172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573330973	chr14:65605184-65605185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187769281	chr14:65605201-65605202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200813723	chr14:65605204-65605205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142636430	chr14:65605259-65605260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144885929	chr14:65605282-65605283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147961330	chr14:65605314-65605315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192691079	chr14:65605362-65605363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184674734	chr14:65605382-65605383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546741405	chr14:65605389-65605390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10873182	chr14:65605408-65605409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs55955501	chr14:65605412-65605413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548760648	chr14:65605448-65605449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11158578	chr14:65605451-65605452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7493525	chr14:65605476-65605477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113887387	chr14:65605487-65605488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143779734	chr14:65605493-65605494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377325210	chr14:65605556-65605557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61987426	chr14:65605571-65605572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17440070	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65601600-65605400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:65602000-65604600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:65602600-65604600	Weak transcription	Fetal Intestine Large	intestine
4	chr14:65604200-65605000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:65604400-65604800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:65604400-65604800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:65604400-65604800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:65604400-65604800	Enhancers	Colonic Mucosa	Colon
9	chr14:65604400-65605000	Enhancers	HMEC	breast
10	chr14:65604400-65605000	Enhancers	NHEK	skin
11	chr14:65604400-65605000	Enhancers	Osteobl	bone
12	chr14:65604400-65605200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:65604400-65605200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr14:65604400-65605200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr14:65604400-65605400	Enhancers	Fetal Intestine Small	intestine
16	chr14:65604600-65604800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:65604600-65604800	Enhancers	HSMMtube	muscle
18	chr14:65604600-65605400	Enhancers	Fetal Intestine Large	intestine
19	chr14:65604800-65605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:65604800-65605400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:65605000-65609200	Weak transcription	Osteobl	bone
22	chr14:65605400-65608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:65605400-65609000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:65608800-65609200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:65608800-65609600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr14:65608800-65609800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:65608800-65610000	Enhancers	HSMMtube	muscle
28	chr14:65609000-65609600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:65609200-65609400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
30	chr14:65609200-65609600	Enhancers	HSMM	muscle
31	chr14:65609200-65609600	Enhancers	Osteobl	bone
32	chr14:65609200-65612000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:65609200-65612800	Enhancers	Fetal Brain Male	brain
34	chr14:65609400-65609600	Enhancers	Ovary	ovary
35	chr14:65609400-65610800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:65609400-65611400	Enhancers	Fetal Lung	lung
37	chr14:65609600-65612000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links