Variant report

Variant	nsv1035950
Chromosome Location	chr14:41620276-41737627
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	chr14:41488666..41490358-chr14:41674438..41676053,2	K562	blood:

Extended variants
information (count: 1354 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1354 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199734610	chr14:41623016-41623017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373780982	chr14:41623024-41623025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192687836	chr14:41623034-41623035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573956040	chr14:41623079-41623080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377259582	chr14:41623080-41623081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568657068	chr14:41623082-41623083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535955537	chr14:41623116-41623117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369779673	chr14:41623155-41623156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184958133	chr14:41623194-41623195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138491654	chr14:41623224-41623225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566498456	chr14:41623288-41623289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534114360	chr14:41623294-41623295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558859365	chr14:41623295-41623296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542924970	chr14:41623321-41623322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577197451	chr14:41623325-41623326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562809034	chr14:41623342-41623343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188171846	chr14:41623376-41623377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192300544	chr14:41623401-41623402	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs9989166	chr14:41623439-41623440	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114621719	chr14:41623447-41623448	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560741162	chr14:41623466-41623467	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374153022	chr14:41623471-41623472	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12433116	chr14:41623494-41623495	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546363000	chr14:41623523-41623524	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545121093	chr14:41623529-41623530	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs112749000	chr14:41623545-41623546	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531879016	chr14:41623572-41623573	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566136862	chr14:41623577-41623578	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543844546	chr14:41623619-41623620	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141925417	chr14:41623640-41623641	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529796835	chr14:41623653-41623654	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs547946412	chr14:41623654-41623655	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs566671947	chr14:41623660-41623661	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527530298	chr14:41623661-41623662	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs12889848	chr14:41623663-41623664	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs552382592	chr14:41623675-41623676	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs570808488	chr14:41623690-41623691	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs538130933	chr14:41623721-41623722	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112506392	chr14:41623737-41623738	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs149429757	chr14:41623756-41623757	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12891249	chr14:41623778-41623779	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535967346	chr14:41623783-41623784	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs58911683	chr14:41623815-41623816	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572480054	chr14:41623861-41623862	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs546127953	chr14:41623873-41623874	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs10136021	chr14:41623911-41623912	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10136032	chr14:41623927-41623928	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543660343	chr14:41624038-41624039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78886862	chr14:41624042-41624043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75480956	chr14:41624068-41624069	Weak transcription	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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41623000-41625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:41623400-41623800	Weak transcription	Pancreas	Pancrea
3	chr14:41623400-41624000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:41623400-41626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:41623800-41624000	ZNF genes & repeats	Pancreas	Pancrea
6	chr14:41640200-41640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:41640200-41640800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:41669600-41669800	Bivalent Enhancer	Left Ventricle	heart
9	chr14:41673000-41673200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:41674400-41674600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr14:41674400-41675000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:41674400-41675000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:41674400-41675200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr14:41674600-41674800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr14:41674800-41675000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr14:41674800-41675200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr14:41674800-41675400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr14:41674800-41675600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr14:41675000-41679600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:41675200-41675400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:41675200-41675400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr14:41675400-41675600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr14:41696200-41696800	Enhancers	Liver	Liver
24	chr14:41696400-41696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:41696800-41699800	Weak transcription	Liver	Liver
26	chr14:41699800-41700400	Enhancers	Liver	Liver
27	chr14:41700400-41703800	Weak transcription	Liver	Liver
28	chr14:41703800-41705600	Enhancers	Liver	Liver
29	chr14:41715400-41716000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:41715400-41716000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:41722000-41722400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:41722000-41722400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:41722000-41723000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:41722000-41723200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:41723200-41734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:41726400-41727200	Enhancers	Liver	Liver
37	chr14:41734200-41734600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:41736400-41737800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:41736600-41738400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links