Variant report

Variant	nsv605008
Chromosome Location	chr6:161253485-161270619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161248150..161249930-chr6:161255516..161257589,2	K562	blood:
2	chr6:161260541..161262340-chr6:161262561..161265121,3	K562	blood:
3	chr6:161260541..161262340-chr6:161262561..161265121,3	K562	blood:
4	chr6:161250769..161254707-chr6:161411304..161414099,3	K562	blood:
5	chr6:161266955..161270556-chr6:161271678..161274838,4	K562	blood:
6	chr6:161255639..161258104-chr6:161293113..161295110,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLG-3	chr6:161268128-161268254	l_3310_chr6:161267548-161283742_testes
2	lnc-PLG-3	chr6:161268016-161268184	NONHSAT115916
3	lnc-PLG-3	chr6:161267549-161267600	l_3310_chr6:161267548-161283742_testes
4	lnc-PLG-3	chr6:161267391-161267600	NONHSAT115916
5	lnc-PLG-3	chr6:161268885-161269038	l_3310_chr6:161267548-161283742_testes

No data

Variant related genes	Relation type
ENSG00000272841	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1247541	chr6:161253485-161253486	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186344358	chr6:161253486-161253487	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs74429501	chr6:161253546-161253547	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200441821	chr6:161253678-161253679	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs62435267	chr6:161253683-161253684	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572147349	chr6:161253730-161253731	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs569692951	chr6:161253764-161253765	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564093568	chr6:161253775-161253776	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs138861506	chr6:161253801-161253802	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs114213314	chr6:161253895-161253896	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572786550	chr6:161253946-161253947	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544824644	chr6:161253947-161253948	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192056523	chr6:161253992-161253993	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575443190	chr6:161254023-161254024	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537099672	chr6:161254053-161254054	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561270792	chr6:161254293-161254294	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530357166	chr6:161254308-161254309	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552307374	chr6:161254355-161254356	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540908634	chr6:161254400-161254401	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560327660	chr6:161254402-161254403	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1652471	chr6:161254403-161254404	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs552398086	chr6:161254491-161254492	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569335963	chr6:161254553-161254554	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183375760	chr6:161254645-161254646	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550823022	chr6:161254662-161254663	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567452994	chr6:161254677-161254678	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs55706744	chr6:161254680-161254681	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs115313344	chr6:161254683-161254684	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367674788	chr6:161258255-161258256	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs551605275	chr6:161258310-161258311	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545563841	chr6:161258363-161258364	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs530282759	chr6:161258371-161258372	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs138086208	chr6:161258435-161258436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531531102	chr6:161258452-161258453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183626163	chr6:161258460-161258461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117622052	chr6:161258489-161258490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375440413	chr6:161258496-161258497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143865500	chr6:161258605-161258606	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs55777945	chr6:161258658-161258659	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs565128254	chr6:161258679-161258680	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs547477211	chr6:161258695-161258696	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs570416881	chr6:161258723-161258724	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs148603325	chr6:161258731-161258732	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs202216646	chr6:161258761-161258762	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs550426076	chr6:161258768-161258769	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs570248020	chr6:161258774-161258775	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs536197435	chr6:161258792-161258793	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs9355842	chr6:161267442-161267443	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575424352	chr6:161267443-161267444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs193038882	chr6:161267457-161267458	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161258200-161258400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:161258200-161258400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:161258200-161258600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:161258600-161258800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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