Variant report

Variant	esv3530695
Chromosome Location	chr14:81691626-81693527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81628909..81631535-chr14:81690174..81692139,2	MCF-7	breast:
2	chr14:81691775..81692400-chr14:81703764..81704509,2	MCF-7	breast:
3	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:
4	chr14:81688918..81692006-chr14:81697199..81699936,3	K562	blood:
5	chr14:81692029..81695563-chr14:81697137..81699977,3	K562	blood:

Variant related genes	Relation type
ENSG00000205579	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539673694	chr14:81691659-81691660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138009142	chr14:81691678-81691679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541077830	chr14:81691755-81691756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371172430	chr14:81691768-81691769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553886131	chr14:81691777-81691778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs28676886	chr14:81691778-81691779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143996279	chr14:81691818-81691819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569853230	chr14:81691856-81691857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188740470	chr14:81691901-81691902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150656796	chr14:81691994-81691995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs28452329	chr14:81692016-81692017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34488738	chr14:81692031-81692032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12896801	chr14:81692042-81692043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554950661	chr14:81692048-81692049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571619085	chr14:81692050-81692051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376315027	chr14:81692053-81692054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201659761	chr14:81692088-81692089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201367002	chr14:81692109-81692110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573341891	chr14:81692125-81692126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552984195	chr14:81692174-81692175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4640110	chr14:81692191-81692192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2371566	chr14:81692198-81692199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7160870	chr14:81692200-81692201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149422932	chr14:81692204-81692205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544889319	chr14:81692205-81692206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546123853	chr14:81692233-81692234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370301412	chr14:81692274-81692275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4592586	chr14:81692293-81692294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61980903	chr14:81692336-81692337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144827459	chr14:81692360-81692361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12897599	chr14:81692376-81692377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12897479	chr14:81692414-81692415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74067426	chr14:81692415-81692416	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201988595	chr14:81692439-81692440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34891345	chr14:81692440-81692441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35795932	chr14:81692441-81692442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34770835	chr14:81692442-81692443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377098825	chr14:81692443-81692444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145344545	chr14:81692460-81692461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76148388	chr14:81692464-81692465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562056972	chr14:81692510-81692511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529354348	chr14:81692602-81692603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563297683	chr14:81692605-81692606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530720712	chr14:81692628-81692629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112147744	chr14:81692698-81692699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552134288	chr14:81692701-81692702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570901668	chr14:81692736-81692737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528580202	chr14:81692750-81692751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546562023	chr14:81692818-81692819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190873840	chr14:81692822-81692823	Weak transcription	Chromatin interactive region	1 gene(s)	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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81688200-81704800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:81688600-81693200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr14:81688800-81700600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:81689400-81700600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:81689600-81693800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:81691400-81692400	Enhancers	Ovary	ovary
7	chr14:81693200-81694000	Enhancers	Monocytes-CD14+_RO01746	blood

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