Variant report

Variant	nsv462657
Chromosome Location	chr6:23879940-23896587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:23879136..23881788-chr6:23889140..23891647,2	K562	blood:
2	chr6:23883681..23885208-chr6:23886637..23889627,2	MCF-7	breast:
3	chr6:23879136..23881788-chr6:23889140..23891647,2	K562	blood:
4	chr6:23883681..23885208-chr6:23886637..23889627,2	MCF-7	breast:
5	chr17:57920621..57922223-chr6:23884700..23886484,2	MCF-7	breast:

Extended variants
information (count: 361 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12190439	chr6:23879940-23879941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193076674	chr6:23879967-23879968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545670373	chr6:23879968-23879969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17299436	chr6:23879981-23879982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs74610721	chr6:23879995-23879996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543210619	chr6:23880003-23880004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79334143	chr6:23880012-23880013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543149195	chr6:23880036-23880037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183946242	chr6:23880053-23880054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559370950	chr6:23880091-23880092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371932951	chr6:23880132-23880133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532931262	chr6:23880143-23880144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552849566	chr6:23880152-23880153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9358715	chr6:23880191-23880192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577732050	chr6:23880217-23880218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62402269	chr6:23880254-23880255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79931103	chr6:23880262-23880263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201198648	chr6:23880313-23880314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17299457	chr6:23880317-23880318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553777705	chr6:23880321-23880322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548102249	chr6:23880322-23880323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114783636	chr6:23880343-23880344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558039160	chr6:23880345-23880346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115751443	chr6:23880354-23880355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16888247	chr6:23880358-23880359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs530154698	chr6:23880370-23880371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561719701	chr6:23880402-23880403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372498690	chr6:23880404-23880405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62402270	chr6:23880441-23880442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs137999922	chr6:23880463-23880464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188937797	chr6:23880476-23880477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373740527	chr6:23880488-23880489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78384736	chr6:23880518-23880519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569673147	chr6:23880545-23880546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192329028	chr6:23880569-23880570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368913241	chr6:23880572-23880573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550382432	chr6:23880578-23880579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537163857	chr6:23880581-23880582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377679576	chr6:23880615-23880616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568292613	chr6:23880626-23880627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552224957	chr6:23880649-23880650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149451752	chr6:23880652-23880653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370927751	chr6:23880680-23880681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145809436	chr6:23880692-23880693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565795034	chr6:23880698-23880699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375605857	chr6:23880709-23880710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376882065	chr6:23880742-23880743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370435351	chr6:23880781-23880782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569969397	chr6:23880827-23880828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138515552	chr6:23880863-23880864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23873600-23881800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:23879800-23880000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:23881800-23883000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:23887200-23887600	Enhancers	Brain Germinal Matrix	brain
5	chr6:23890200-23890400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:23890400-23890600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:23890400-23890600	Enhancers	Liver	Liver
8	chr6:23890400-23890800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:23890400-23890800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:23890400-23890800	Enhancers	NHDF-Ad	bronchial
11	chr6:23890600-23890800	Enhancers	Adipose Nuclei	Adipose
12	chr6:23890600-23890800	Flanking Active TSS	Liver	Liver
13	chr6:23890600-23891400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:23890800-23891000	Active TSS	Liver	Liver
15	chr6:23890800-23891200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:23890800-23893400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:23893400-23893800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links