Variant report

Variant	nsv527477
Chromosome Location	chr6:29745075-29746869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2517930	chr6:29745075-29745076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534058424	chr6:29745077-29745078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116371924	chr6:29745078-29745079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570407637	chr6:29745081-29745082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375936430	chr6:29745089-29745090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386698446	chr6:29745125-29745126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186411489	chr6:29745127-29745128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150068497	chr6:29745139-29745140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115765316	chr6:29745153-29745154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2517929	chr6:29745175-29745176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs62394670	chr6:29745211-29745212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553754907	chr6:29745282-29745283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114394794	chr6:29745283-29745284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115069698	chr6:29745285-29745286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564989792	chr6:29745289-29745290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190810993	chr6:29745306-29745307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1737021	chr6:29745321-29745322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs183059508	chr6:29745329-29745330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145418181	chr6:29745344-29745345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2517928	chr6:29745350-29745351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs1618670	chr6:29745351-29745352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148814118	chr6:29745372-29745373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61082760	chr6:29745398-29745399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386698447	chr6:29745438-29745439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2394685	chr6:29745439-29745440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs61341005	chr6:29745479-29745480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201542218	chr6:29745482-29745483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367619187	chr6:29745536-29745537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145928572	chr6:29745557-29745558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138861577	chr6:29745569-29745570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116425966	chr6:29745576-29745577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4122198	chr6:29745593-29745594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs540508799	chr6:29745610-29745611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9461552	chr6:29745632-29745633	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576527495	chr6:29745645-29745646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1615962	chr6:29745726-29745727	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs141270708	chr6:29745727-29745728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115841270	chr6:29745751-29745752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1615251	chr6:29745761-29745762	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs115559789	chr6:29745772-29745773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1633030	chr6:29745794-29745795	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs562087492	chr6:29745863-29745864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527472675	chr6:29745864-29745865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4711198	chr6:29745865-29745866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1614309	chr6:29745884-29745885	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs150789253	chr6:29745915-29745916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116510393	chr6:29745971-29745972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116052481	chr6:29745978-29745979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138092813	chr6:29745980-29745981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149550517	chr6:29746097-29746098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29733600-29755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:29739000-29753600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:29742000-29745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:29743000-29746000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:29744200-29745600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:29745200-29746000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:29745600-29745800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:29745600-29746200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:29745600-29747200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:29745600-29747200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:29746000-29746200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:29746000-29746400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:29746200-29746600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:29746200-29747200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:29746400-29747200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:29746600-29747000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:29746600-29747000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:29746600-29747200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:29746800-29747200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links