Variant report

Variant	nsv901737
Chromosome Location	chr14:41871875-41928909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:41873770..41876020-chr14:41877862..41880665,2	MCF-7	breast:
2	chr14:41916762..41919309-chr14:41919759..41921480,2	K562	blood:
3	chr14:41873770..41876020-chr14:41877862..41880665,2	MCF-7	breast:
4	chr14:41285689..41286269-chr14:41888680..41889346,2	MCF-7	breast:
5	chr14:41916762..41919309-chr14:41919759..41921480,2	K562	blood:

Extended variants
information (count: 1969 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1969 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17111971	chr14:41871875-41871876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59437675	chr14:41871924-41871925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs397725798	chr14:41871932-41871933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199699829	chr14:41871933-41871934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12587374	chr14:41871960-41871961	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs180909498	chr14:41871988-41871989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544905208	chr14:41872039-41872040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563484151	chr14:41872090-41872091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373316923	chr14:41872155-41872156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10648186	chr14:41872195-41872196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368528330	chr14:41872196-41872197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35216004	chr14:41872200-41872201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397825273	chr14:41872201-41872202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533779777	chr14:41872222-41872223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530754264	chr14:41872293-41872294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202123058	chr14:41872313-41872314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542905577	chr14:41872318-41872319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113306714	chr14:41872324-41872325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35701758	chr14:41872408-41872409	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs528510905	chr14:41872479-41872480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs546987208	chr14:41872505-41872506	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs377354461	chr14:41872551-41872552	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs532621378	chr14:41872554-41872555	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs573384216	chr14:41872559-41872560	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs185024510	chr14:41872574-41872575	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs569428632	chr14:41872586-41872587	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs371460558	chr14:41872633-41872634	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs536395787	chr14:41872670-41872671	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs191297139	chr14:41872784-41872785	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs139581994	chr14:41872801-41872802	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs534340230	chr14:41872857-41872858	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs552531762	chr14:41872865-41872866	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs577699822	chr14:41872909-41872910	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs34201309	chr14:41872953-41872954	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs545078209	chr14:41872976-41872977	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs145082905	chr14:41872984-41872985	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs542038287	chr14:41872997-41872998	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs556923168	chr14:41873015-41873016	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs181339401	chr14:41873073-41873074	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs369867287	chr14:41873095-41873096	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs561914300	chr14:41873098-41873099	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs75804286	chr14:41873121-41873122	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs8004383	chr14:41873129-41873130	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540663489	chr14:41873132-41873133	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs565268431	chr14:41873156-41873157	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs35987814	chr14:41873199-41873200	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs532542567	chr14:41873203-41873204	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs562263523	chr14:41873204-41873205	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs568737324	chr14:41873212-41873213	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs551054445	chr14:41873232-41873233	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41869200-41872800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr14:41869800-41872800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:41870000-41872400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:41870400-41872400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:41870600-41872800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:41870600-41895400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:41871000-41888400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:41871600-41872200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:41871800-41873400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:41872200-41872800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:41872400-41872600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr14:41872400-41872600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:41872400-41872800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr14:41872600-41872800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:41872600-41872800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:41872600-41873200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:41872800-41873000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:41872800-41873000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr14:41872800-41873200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr14:41872800-41873200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr14:41872800-41873400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr14:41872800-41873400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr14:41872800-41873600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:41872800-41873600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:41872800-41873600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:41872800-41873800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr14:41873000-41873200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr14:41873000-41873200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr14:41873000-41873600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:41873200-41873400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr14:41873200-41873400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
32	chr14:41873200-41874000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:41873200-41874200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr14:41873400-41873600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:41873400-41873600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr14:41873400-41873600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr14:41873400-41874200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:41873400-41874400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr14:41873600-41874800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:41874000-41874800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr14:41874200-41874400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr14:41874200-41874600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr14:41874400-41874800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr14:41874400-41874800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:41874600-41874800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:41874800-41886200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr14:41886200-41886400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:41886200-41886400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr14:41886200-41887000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr14:41886200-41887200	Enhancers	HUES64 Cell Line	embryonic stem cell

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