Variant report

Variant	nsv564576
Chromosome Location	chr14:42983879-42996601
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	chr14:42995581..42997108-chr14:42999086..43001857,2	K562	blood:

Extended variants
information (count: 456 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8022213	chr14:42983879-42983880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542845989	chr14:42983906-42983907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147775040	chr14:42983956-42983957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528751574	chr14:42983987-42983988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74049208	chr14:42984048-42984049	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182595535	chr14:42984049-42984050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565833436	chr14:42984124-42984125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534796984	chr14:42984217-42984218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540278426	chr14:42984252-42984253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548532460	chr14:42984300-42984301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532579960	chr14:42984311-42984312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551093104	chr14:42984341-42984342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568363100	chr14:42984350-42984351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563000501	chr14:42984361-42984362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141079984	chr14:42984383-42984384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537484666	chr14:42984431-42984432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187485329	chr14:42984483-42984484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142633252	chr14:42984487-42984488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149904973	chr14:42984590-42984591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192664884	chr14:42984591-42984592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74049209	chr14:42984621-42984622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184456833	chr14:42984644-42984645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368245894	chr14:42984658-42984659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370161006	chr14:42984661-42984662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557284831	chr14:42984709-42984710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35510566	chr14:42984790-42984791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189037664	chr14:42984812-42984813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542869186	chr14:42984836-42984837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149745632	chr14:42984837-42984838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374432053	chr14:42984842-42984843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371426904	chr14:42984880-42984881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556621102	chr14:42984892-42984893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574958800	chr14:42984898-42984899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144944321	chr14:42984952-42984953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554818549	chr14:42984967-42984968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149202395	chr14:42984991-42984992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34278120	chr14:42985003-42985004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs117243804	chr14:42985013-42985014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577289822	chr14:42985053-42985054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192553469	chr14:42985055-42985056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573146658	chr14:42985111-42985112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562888404	chr14:42985142-42985143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550870768	chr14:42985179-42985180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143333504	chr14:42985180-42985181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12887461	chr14:42985228-42985229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139030778	chr14:42985232-42985233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528332993	chr14:42985238-42985239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562084102	chr14:42985256-42985257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546554675	chr14:42985298-42985299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571549575	chr14:42985334-42985335	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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42982000-42984600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:42982200-42984200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:42982400-42984000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:42982400-42984200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:42982600-42984000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr14:42982800-42984800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:42983000-42984200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:42983400-42984000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:42983400-42987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:42984200-42987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:42987200-42987600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:42987200-42987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:42987200-42987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:42987600-42992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:42987800-42988000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr14:42988000-42991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:42992200-42994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:42992800-42993200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:42992800-42993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:42992800-42993200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:42992800-42993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:42992800-42993200	Enhancers	Brain Anterior Caudate	brain
23	chr14:42992800-42993400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr14:42992800-42993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:42993000-42993200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:42993000-42993200	Enhancers	Brain Substantia Nigra	brain
27	chr14:42993000-42993200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr14:42993000-42993200	Enhancers	Fetal Lung	lung
29	chr14:42993000-42993600	Enhancers	Fetal Brain Female	brain
30	chr14:42993200-42996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:42993600-42994000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:42994000-42994600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:42996600-42997200	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links