Variant report

Variant	esv19757
Chromosome Location	chr14:71630023-71630732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71629289..71631183-chr14:71936634..71939360,2	MCF-7	breast:
2	chr14:71536680..71538584-chr14:71630559..71632306,2	MCF-7	breast:
3	chr14:71630664..71636301-chr14:71785635..71788811,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	chromatin interactions
ENSG00000197555	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150509726	chr14:71630047-71630048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568440106	chr14:71630056-71630057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28733964	chr14:71630061-71630062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs200251498	chr14:71630081-71630082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371369821	chr14:71630105-71630106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76556757	chr14:71630108-71630109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367674653	chr14:71630111-71630112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7158546	chr14:71630145-71630146	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs117964915	chr14:71630164-71630165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7158703	chr14:71630192-71630193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60918841	chr14:71630193-71630194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17109098	chr14:71630207-71630208	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536728074	chr14:71630208-71630209	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555474751	chr14:71630216-71630217	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28499025	chr14:71630236-71630237	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs117617603	chr14:71630248-71630249	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7158714	chr14:71630262-71630263	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs577525383	chr14:71630286-71630287	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs144512407	chr14:71630287-71630288	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77100082	chr14:71630363-71630364	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs575422259	chr14:71630384-71630385	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs543535075	chr14:71630398-71630399	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs34563037	chr14:71630410-71630411	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs562187470	chr14:71630506-71630507	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs529260392	chr14:71630517-71630518	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs547824284	chr14:71630518-71630519	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs377273071	chr14:71630522-71630523	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs556779436	chr14:71630523-71630524	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs377441111	chr14:71630565-71630566	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs7160775	chr14:71630575-71630576	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs570135625	chr14:71630585-71630586	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs74800609	chr14:71630586-71630587	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs7160785	chr14:71630603-71630604	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78421465	chr14:71630625-71630626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7160814	chr14:71630658-71630659	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs534279860	chr14:71630660-71630661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566396521	chr14:71630703-71630704	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540199354	chr14:71630710-71630711	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552540592	chr14:71630715-71630716	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71622600-71630400	Weak transcription	Fetal Kidney	kidney
2	chr14:71629400-71630400	Enhancers	Duodenum Mucosa	Duodenum
3	chr14:71629400-71632800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:71629400-71633400	Enhancers	Fetal Intestine Small	intestine
5	chr14:71629400-71633800	Enhancers	Liver	Liver
6	chr14:71629600-71630200	Enhancers	HepG2	liver
7	chr14:71629600-71632600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr14:71629600-71633600	Enhancers	Fetal Intestine Large	intestine
9	chr14:71629800-71630400	Enhancers	A549	lung
10	chr14:71630000-71630600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:71630000-71631200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:71630200-71630400	Flanking Active TSS	HepG2	liver
13	chr14:71630200-71632200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:71630200-71633000	Enhancers	Colonic Mucosa	Colon
15	chr14:71630400-71630600	Bivalent Enhancer	HepG2	liver
16	chr14:71630400-71631800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:71630400-71632200	Enhancers	Brain Anterior Caudate	brain
18	chr14:71630400-71633000	Enhancers	Pancreas	Pancrea
19	chr14:71630400-71633200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr14:71630400-71633800	Enhancers	Fetal Kidney	kidney
21	chr14:71630600-71631800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:71630600-71633400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:71630600-71633600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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