Variant report

Variant	nsv564466
Chromosome Location	chr14:41097663-41178758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:41113572..41115996-chr14:41117287..41119749,2	MCF-7	breast:
2	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:
3	chr14:41113572..41115996-chr14:41117287..41119749,2	MCF-7	breast:
4	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO33-4	chr14:41126920-41126997	l_973_chr14:41126919-41143836_ovary
2	lnc-FBXO33-4	chr14:41127113-41127240	l_973_chr14:41126919-41143836_ovary
3	lnc-FBXO33-4	chr14:41143707-41144144	l_973_chr14:41126919-41143836_ovary

No data

Extended variants
information (count: 1525 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1525 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7143772	chr14:41097663-41097664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7143930	chr14:41097687-41097688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372055549	chr14:41097696-41097697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs207474693	chr14:41097711-41097712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183221276	chr14:41097738-41097739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7143815	chr14:41097746-41097747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563544388	chr14:41097749-41097750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201083389	chr14:41097760-41097761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540458908	chr14:41097780-41097781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558869522	chr14:41097813-41097814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188219505	chr14:41097830-41097831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544583593	chr14:41097847-41097848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369224701	chr14:41097848-41097849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6572033	chr14:41097863-41097864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541954597	chr14:41097871-41097872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560675908	chr14:41097902-41097903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191719606	chr14:41097913-41097914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183570787	chr14:41097927-41097928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6572034	chr14:41097942-41097943	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564408803	chr14:41097962-41097963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114421074	chr14:41098020-41098021	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs187267781	chr14:41098039-41098040	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141818873	chr14:41098050-41098051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192563485	chr14:41098092-41098093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs8011430	chr14:41098113-41098114	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566590519	chr14:41098121-41098122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533720973	chr14:41098141-41098142	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145576945	chr14:41098147-41098148	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7150170	chr14:41098150-41098151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538139237	chr14:41098188-41098189	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556542976	chr14:41098198-41098199	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114082347	chr14:41098210-41098211	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs8013004	chr14:41098283-41098284	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs137888710	chr14:41098293-41098294	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs572522254	chr14:41098305-41098306	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs8013037	chr14:41098344-41098345	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs149465051	chr14:41098359-41098360	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs186662338	chr14:41098410-41098411	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117387457	chr14:41098422-41098423	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562442229	chr14:41098441-41098442	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570772617	chr14:41098451-41098452	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529638330	chr14:41098453-41098454	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548190146	chr14:41098456-41098457	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192705514	chr14:41098458-41098459	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184917874	chr14:41098461-41098462	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189763084	chr14:41098467-41098468	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570656160	chr14:41098488-41098489	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143949536	chr14:41098496-41098497	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556481441	chr14:41098526-41098527	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574700888	chr14:41098613-41098614	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41094600-41098600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:41097800-41098000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:41097800-41098200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:41098000-41098400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:41098000-41098400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:41098000-41098600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:41098200-41098400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:41098200-41099400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:41098200-41099600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:41098200-41100400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:41098400-41099000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:41098400-41099400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr14:41098400-41099600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:41098400-41099800	Active TSS	K562	blood
15	chr14:41098400-41100400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:41098400-41100600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:41098600-41099400	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr14:41098600-41099600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr14:41098600-41099800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:41098600-41099800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:41098600-41099800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:41098600-41099800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr14:41098600-41100400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:41098800-41099000	Enhancers	Placenta	Placenta
25	chr14:41098800-41099400	Active TSS	Right Ventricle	heart
26	chr14:41098800-41099400	Active TSS	Thymus	Thymus
27	chr14:41099000-41099400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:41099000-41099400	Flanking Active TSS	Placenta	Placenta
29	chr14:41099000-41099400	Active TSS	Pancreas	Pancrea
30	chr14:41099200-41099600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr14:41099400-41099600	Active TSS	Placenta	Placenta
32	chr14:41099400-41099800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:41099600-41099800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:41099600-41100000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:41099800-41100000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr14:41100000-41100200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:41100200-41100400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:41100400-41100800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:41100600-41101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:41100800-41101200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:41101000-41101200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:41101200-41102400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:41101200-41103800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:41102400-41102600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:41103800-41104000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:41120600-41131200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:41151600-41152000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:41151600-41152000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr14:41151800-41152200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:41152000-41156600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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