Variant report

Variant	nsv593800
Chromosome Location	chr4:21456023-21471568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20774692..20775734-chr4:21470776..21471557,3	MCF-7	breast:
2	chr4:21186540..21187139-chr4:21470730..21471606,2	MCF-7	breast:
3	chr4:21186139..21187069-chr4:21470759..21471732,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR125-6	chr4:21454062-21463909	ucscGeneNc_uc003gqj_1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7978	chr4:21466361-21466381	MIMAT0031181

Extended variants
information (count: 522 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs358573	chr4:21456023-21456024	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77811473	chr4:21456030-21456031	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs547441908	chr4:21456048-21456049	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs146797848	chr4:21456065-21456066	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs73249590	chr4:21456067-21456068	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs557942017	chr4:21456169-21456170	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs532816742	chr4:21456224-21456225	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs537223535	chr4:21456244-21456245	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs556057120	chr4:21456253-21456254	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs12510093	chr4:21456256-21456257	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs541041701	chr4:21456281-21456282	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs73105836	chr4:21456386-21456387	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549719349	chr4:21456397-21456398	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs188913801	chr4:21456426-21456427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs181654041	chr4:21456496-21456497	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs545165269	chr4:21456500-21456501	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs563370148	chr4:21456547-21456548	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs358572	chr4:21456567-21456568	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368071825	chr4:21456615-21456616	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs532027470	chr4:21456620-21456621	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs10025716	chr4:21456622-21456623	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76024853	chr4:21456630-21456631	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs142895913	chr4:21456633-21456634	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs531629222	chr4:21456674-21456675	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs184802823	chr4:21456793-21456794	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs6843171	chr4:21456813-21456814	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6843180	chr4:21456829-21456830	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190557424	chr4:21456904-21456905	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs537665463	chr4:21456908-21456909	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs6843022	chr4:21456943-21456944	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576130351	chr4:21456947-21456948	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs567950566	chr4:21456951-21456952	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs75512552	chr4:21456974-21456975	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs558388260	chr4:21456981-21456982	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs182267848	chr4:21457022-21457023	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs151088119	chr4:21457051-21457052	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs59882658	chr4:21457105-21457106	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536277011	chr4:21457106-21457107	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs6843295	chr4:21457126-21457127	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569051500	chr4:21457167-21457168	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs575377817	chr4:21457198-21457199	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs186057672	chr4:21457224-21457225	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs200924043	chr4:21457248-21457249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs543224444	chr4:21457249-21457250	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs540620263	chr4:21457278-21457279	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs560874661	chr4:21457308-21457309	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs575973663	chr4:21457312-21457313	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs190978667	chr4:21457329-21457330	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs200338093	chr4:21457330-21457331	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs541933817	chr4:21457338-21457339	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21448400-21465600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:21452200-21456200	Enhancers	NHEK	skin
3	chr4:21452400-21456200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:21456600-21456800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:21467400-21467800	Enhancers	Pancreas	Pancrea
6	chr4:21468800-21469800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:21468800-21470000	Enhancers	NHEK	skin
8	chr4:21468800-21470200	Enhancers	HMEC	breast
9	chr4:21469000-21469200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:21469000-21469200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:21469200-21470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:21469600-21471600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:21469800-21470200	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:21469800-21471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:21470000-21470200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:21470000-21470400	Active TSS	Brain Hippocampus Middle	brain
17	chr4:21470000-21470400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr4:21470200-21470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:21470200-21471600	Weak transcription	HMEC	breast
20	chr4:21470400-21470600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:21470400-21470600	Enhancers	Brain Hippocampus Middle	brain
22	chr4:21470600-21471600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:21470800-21471000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:21470800-21471600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:21470800-21472800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:21470800-21472800	Enhancers	Brain Germinal Matrix	brain
27	chr4:21471000-21472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:21471400-21472200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:21471400-21472400	Enhancers	HSMM	muscle
30	chr4:21471400-21472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:21471400-21472600	Enhancers	HUVEC	blood vessel
32	chr4:21471400-21472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links