Variant report

Variant	esv14631
Chromosome Location	chr14:68901815-68906031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68905969..68908035-chr14:68908553..68911248,2	MCF-7	breast:
2	chr14:68905083..68907037-chr14:69260254..69261776,2	MCF-7	breast:
3	chr14:68903088..68905318-chr14:68921062..68923121,2	MCF-7	breast:
4	chr14:68902379..68904838-chr14:68925274..68927509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs370226899	chr14:68901843-68901844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536578856	chr14:68901845-68901846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578037094	chr14:68901883-68901884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554829744	chr14:68901943-68901944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577621966	chr14:68901987-68901988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111593653	chr14:68901997-68901998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192138565	chr14:68902013-68902014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558839052	chr14:68902065-68902066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577678247	chr14:68902095-68902096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148281924	chr14:68902103-68902104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141396813	chr14:68902104-68902105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575289342	chr14:68902119-68902120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542978094	chr14:68902128-68902129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561183012	chr14:68902136-68902137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111368554	chr14:68902209-68902210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35536205	chr14:68902210-68902211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529106661	chr14:68902211-68902212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573144525	chr14:68902217-68902218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398025517	chr14:68902227-68902228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540428477	chr14:68902259-68902260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190293602	chr14:68902331-68902332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532678150	chr14:68902377-68902378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550777148	chr14:68902411-68902412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562938261	chr14:68902420-68902421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530054978	chr14:68902443-68902444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553946081	chr14:68902503-68902504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548152930	chr14:68902528-68902529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566827561	chr14:68902529-68902530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534182964	chr14:68902569-68902570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7151360	chr14:68902707-68902708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570955863	chr14:68902759-68902760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193285973	chr14:68902760-68902761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8012610	chr14:68902799-68902800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139578692	chr14:68902805-68902806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536274702	chr14:68902836-68902837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184166706	chr14:68902857-68902858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573181559	chr14:68902879-68902880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11846851	chr14:68902972-68902973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189540770	chr14:68903037-68903038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576950140	chr14:68903122-68903123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544363919	chr14:68903124-68903125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142841228	chr14:68903169-68903170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2331702	chr14:68903186-68903187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10149463	chr14:68903191-68903192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544853814	chr14:68903197-68903198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181079130	chr14:68903203-68903204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185728403	chr14:68903211-68903212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373780126	chr14:68903212-68903213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552572157	chr14:68903214-68903215	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571059143	chr14:68903235-68903236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68886600-68903200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68895200-68914400	Weak transcription	A549	lung
3	chr14:68901400-68908600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:68901800-68907400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:68903000-68911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:68903200-68904000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:68903600-68907200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:68904000-68910000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:68905200-68906800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:68905600-68906800	Enhancers	Fetal Muscle Leg	muscle
11	chr14:68905800-68906000	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:68905800-68906200	Enhancers	Spleen	Spleen
13	chr14:68906000-68906400	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:68906000-68907000	Enhancers	Fetal Heart	heart

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