Variant report

Variant	nsv901839
Chromosome Location	chr14:45129864-45181337
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	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:

Extended variants
information (count: 414 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10484173	chr14:45129864-45129865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75673157	chr14:45129895-45129896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78203407	chr14:45129900-45129901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571186979	chr14:45129947-45129948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150422601	chr14:45129966-45129967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74646753	chr14:45130060-45130061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556788534	chr14:45130087-45130088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575183199	chr14:45130163-45130164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536181145	chr14:45130278-45130279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527735106	chr14:45130288-45130289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17638194	chr14:45130308-45130309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376539375	chr14:45130318-45130319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369774343	chr14:45130347-45130348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187707141	chr14:45130392-45130393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116980844	chr14:45130492-45130493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552899185	chr14:45130510-45130511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566327847	chr14:45130525-45130526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113365127	chr14:45130540-45130541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375634339	chr14:45130571-45130572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535345846	chr14:45130681-45130682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563933573	chr14:45130730-45130731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548458214	chr14:45130776-45130777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568659489	chr14:45130782-45130783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370516829	chr14:45130789-45130790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561447411	chr14:45130806-45130807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113886031	chr14:45130819-45130820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546645231	chr14:45130824-45130825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535943853	chr14:45130831-45130832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12892234	chr14:45130832-45130833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192196662	chr14:45130839-45130840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575623460	chr14:45130867-45130868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376483066	chr14:45130880-45130881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185338387	chr14:45130882-45130883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200972387	chr14:45130884-45130885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146047880	chr14:45130914-45130915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566627674	chr14:45130927-45130928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201590320	chr14:45130939-45130940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570181220	chr14:45130941-45130942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538200182	chr14:45130968-45130969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74749227	chr14:45130969-45130970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553386264	chr14:45130976-45130977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111741496	chr14:45131000-45131001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142655530	chr14:45131001-45131002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571976083	chr14:45131013-45131014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8020606	chr14:45131030-45131031	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs62010465	chr14:45131068-45131069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115050566	chr14:45131079-45131080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148658704	chr14:45131108-45131109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188654337	chr14:45131134-45131135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142153061	chr14:45131135-45131136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45127400-45131600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:45128400-45131000	Weak transcription	Liver	Liver
3	chr14:45131000-45131600	Enhancers	Liver	Liver
4	chr14:45131200-45132000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr14:45131200-45132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:45131400-45131600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr14:45131400-45131800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:45131400-45131800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr14:45131400-45132400	Enhancers	Fetal Intestine Small	intestine
10	chr14:45131400-45132600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:45131400-45133200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr14:45131600-45131800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:45131600-45132000	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr14:45131600-45132000	Flanking Active TSS	Liver	Liver
15	chr14:45131600-45132200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:45131600-45132200	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr14:45131600-45132200	Enhancers	Dnd41	blood
18	chr14:45131600-45132400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr14:45131600-45132800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:45131600-45133000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:45131600-45133000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:45131600-45133600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:45131600-45133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:45131800-45132800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:45132000-45132200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr14:45132000-45132200	Enhancers	Liver	Liver
27	chr14:45132000-45132400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:45132200-45132400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr14:45132200-45132400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:45132400-45132600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr14:45132800-45133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:45132800-45133600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:45137000-45137400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:45142400-45143600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:45168600-45168800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:45168600-45168800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:45168800-45170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:45168800-45171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:45169000-45169400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:45169200-45170000	Enhancers	Fetal Heart	heart
41	chr14:45169600-45170600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:45169800-45170800	Enhancers	NH-A	brain
43	chr14:45170800-45171200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:45170800-45171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:45171000-45171200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:45180400-45181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:45181000-45181600	Enhancers	Stomach Smooth Muscle	stomach
48	chr14:45181000-45181800	Enhancers	Fetal Kidney	kidney

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