Variant report

Variant	nsv1067917
Chromosome Location	chr6:144498026-144517214
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144509051..144510978-chr6:144536060..144537778,2	MCF-7	breast:
2	chr6:144515521..144517028-chr6:144604783..144606957,2	MCF-7	breast:
3	chr6:144509634..144515392-chr6:144515473..144518844,5	MCF-7	breast:
4	chr6:144509634..144515392-chr6:144515473..144518844,5	MCF-7	breast:
5	chr6:144477392..144479539-chr6:144497614..144499200,2	MCF-7	breast:
6	chr13:96725464..96726444-chr6:144512474..144513042,2	MCF-7	breast:
7	chr6:144502971..144505741-chr6:144509971..144512409,2	K562	blood:
8	chr6:144502971..144505741-chr6:144509971..144512409,2	K562	blood:
9	chr6:144515219..144517320-chr6:144531063..144533998,2	K562	blood:
10	chr6:144499605..144501312-chr6:144540147..144541941,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152818	chromatin interactions

Extended variants
information (count: 733 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114064563	chr6:144498048-144498049	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377632200	chr6:144498065-144498066	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575855355	chr6:144498066-144498067	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77525412	chr6:144498075-144498076	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564479485	chr6:144498139-144498140	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572666370	chr6:144498150-144498151	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150818600	chr6:144498233-144498234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540667508	chr6:144498328-144498329	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562156768	chr6:144498391-144498392	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529459133	chr6:144498411-144498412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114690157	chr6:144498426-144498427	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149004954	chr6:144498474-144498475	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373377147	chr6:144498475-144498476	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374041393	chr6:144498477-144498478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533218265	chr6:144498623-144498624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551406868	chr6:144498638-144498639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs554003862	chr6:144498664-144498665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs566785835	chr6:144498715-144498716	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376090879	chr6:144498744-144498745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573755054	chr6:144498753-144498754	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs542865091	chr6:144498754-144498755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533528909	chr6:144498770-144498771	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs548608733	chr6:144498785-144498786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566976461	chr6:144498828-144498829	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556198811	chr6:144498834-144498835	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537558615	chr6:144498881-144498882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs139237619	chr6:144498882-144498883	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544581926	chr6:144498909-144498910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150012945	chr6:144498930-144498931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540054055	chr6:144498937-144498938	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369179843	chr6:144498948-144498949	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558154840	chr6:144498984-144498985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573623375	chr6:144499009-144499010	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540631401	chr6:144499021-144499022	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs77412388	chr6:144499078-144499079	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572020516	chr6:144499081-144499082	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544732441	chr6:144499142-144499143	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs4895634	chr6:144499144-144499145	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532960520	chr6:144499220-144499221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78251391	chr6:144499221-144499222	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs34502493	chr6:144499226-144499227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75074730	chr6:144499227-144499228	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs563323235	chr6:144499228-144499229	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs527626428	chr6:144499238-144499239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs193165048	chr6:144499291-144499292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs56155818	chr6:144499304-144499305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141015194	chr6:144499384-144499385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs79433832	chr6:144499395-144499396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184567577	chr6:144499422-144499423	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376870066	chr6:144499470-144499471	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	21448237	CNVD
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144473400-144513800	Weak transcription	Primary T cells from cord blood	blood
2	chr6:144473600-144507800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:144474200-144499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:144475000-144500600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr6:144476800-144500600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:144479000-144500600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:144479000-144511800	Weak transcription	Psoas Muscle	Psoas
8	chr6:144480200-144508200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:144481000-144507800	Weak transcription	Left Ventricle	heart
10	chr6:144481200-144507800	Weak transcription	Right Ventricle	heart
11	chr6:144484800-144500600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:144485200-144500600	Weak transcription	Primary B cells from cord blood	blood
13	chr6:144487000-144507800	Weak transcription	Esophagus	oesophagus
14	chr6:144488800-144510000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:144489400-144508200	Weak transcription	Liver	Liver
16	chr6:144490400-144503400	Weak transcription	Spleen	Spleen
17	chr6:144493400-144498200	Genic enhancers	Monocytes-CD14+_RO01746	blood
18	chr6:144493600-144500800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:144493600-144507600	Weak transcription	Placenta	Placenta
20	chr6:144493800-144500600	Weak transcription	Lung	lung
21	chr6:144495000-144500400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:144495200-144499200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:144496000-144499000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:144497200-144498400	Enhancers	Adipose Nuclei	Adipose
25	chr6:144497200-144499400	Weak transcription	GM12878-XiMat	blood
26	chr6:144497200-144499600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:144497400-144500600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:144497400-144508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:144497800-144500600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:144497800-144501000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:144498000-144498200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr6:144498000-144498800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr6:144498000-144500600	Weak transcription	Fetal Heart	heart
34	chr6:144498200-144499800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr6:144498200-144503200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:144498400-144499400	Weak transcription	Adipose Nuclei	Adipose
37	chr6:144498600-144498800	Enhancers	Right Atrium	heart
38	chr6:144498800-144502400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr6:144498800-144503400	Weak transcription	Right Atrium	heart
40	chr6:144499000-144501400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:144499200-144499600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:144499400-144499800	Enhancers	Adipose Nuclei	Adipose
43	chr6:144499400-144501200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:144499400-144501400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:144499400-144503200	ZNF genes & repeats	GM12878-XiMat	blood
46	chr6:144499600-144500800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr6:144499600-144511000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:144499800-144500400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr6:144499800-144507800	Weak transcription	Adipose Nuclei	Adipose
50	chr6:144500400-144500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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