Variant report

Variant	esv2198876
Chromosome Location	chr14:68995187-68995656
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	chr14:68994426..68996258-chr14:69013993..69016421,2	MCF-7	breast:
2	chr14:68995172..68997333-chr14:69028182..69030145,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550061604	chr14:68995199-68995200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186239733	chr14:68995212-68995213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535664203	chr14:68995267-68995268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554313250	chr14:68995279-68995280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566458156	chr14:68995284-68995285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568155961	chr14:68995295-68995296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570804189	chr14:68995319-68995320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538026811	chr14:68995363-68995364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368859482	chr14:68995395-68995396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558293908	chr14:68995402-68995403	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576903789	chr14:68995413-68995414	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148202751	chr14:68995450-68995451	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374497641	chr14:68995451-68995452	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377698826	chr14:68995452-68995453	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200140542	chr14:68995453-68995454	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190910493	chr14:68995484-68995485	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544557059	chr14:68995495-68995496	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182397633	chr14:68995496-68995497	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73282371	chr14:68995549-68995550	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541681021	chr14:68995611-68995612	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560261256	chr14:68995616-68995617	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572482791	chr14:68995630-68995631	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556426106	chr14:68995640-68995641	Weak transcription ZNF genes & repeats Enhancers Active TSS	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68987400-68996200	Enhancers	Pancreas	Pancrea
2	chr14:68990000-68995400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:68990000-68995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:68990000-68996000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:68992600-68996000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:68993000-68995800	Enhancers	Liver	Liver
7	chr14:68993200-68995200	Enhancers	Rectal Smooth Muscle	rectum
8	chr14:68993200-68995600	Enhancers	Colon Smooth Muscle	Colon
9	chr14:68993600-68995200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr14:68993600-68996600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:68993800-68995200	Enhancers	Fetal Intestine Small	intestine
12	chr14:68993800-68995400	Enhancers	Primary B cells from cord blood	blood
13	chr14:68993800-68995800	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:68993800-68996000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:68994000-68995200	Enhancers	HUVEC	blood vessel
16	chr14:68994000-68995800	Enhancers	Hela-S3	cervix
17	chr14:68994200-68995200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:68994200-68995800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:68994200-68996000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr14:68994400-68995200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr14:68994400-69001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:68994600-68996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:68994800-68996000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr14:68995000-68995800	Weak transcription	Stomach Mucosa	stomach
25	chr14:68995000-69001200	Weak transcription	HSMMtube	muscle
26	chr14:68995200-68995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:68995200-68995600	Weak transcription	Fetal Intestine Small	intestine
28	chr14:68995400-68996200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr14:68995600-68995800	Active TSS	Colon Smooth Muscle	Colon
30	chr14:68995600-68996200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:68995600-68997000	ZNF genes & repeats	Fetal Intestine Small	intestine

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