Variant report

Variant	nsv966694
Chromosome Location	chr6:55622917-55625119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:55497542..55498111-chr6:55623067..55623980,2	MCF-7	breast:
2	chr6:55622493..55624357-chr6:55728827..55731064,2	MCF-7	breast:
3	chr6:55623116..55625818-chr6:55638380..55641256,2	MCF-7	breast:
4	chr6:55613375..55615360-chr6:55624313..55626846,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555443440	chr6:55622975-55622976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530549528	chr6:55622990-55622991	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550649750	chr6:55623083-55623084	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78140786	chr6:55623091-55623092	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551199105	chr6:55623137-55623138	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369145183	chr6:55623174-55623175	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs570990402	chr6:55623194-55623195	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187500400	chr6:55623208-55623209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557618301	chr6:55623226-55623227	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368539739	chr6:55623301-55623302	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192612948	chr6:55623315-55623316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185506404	chr6:55623321-55623322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189525911	chr6:55623362-55623363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76395649	chr6:55623391-55623392	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73453340	chr6:55623476-55623477	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572780486	chr6:55623507-55623508	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545031249	chr6:55623517-55623518	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73453343	chr6:55623529-55623530	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533716021	chr6:55623536-55623537	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550387381	chr6:55623602-55623603	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563940864	chr6:55623618-55623619	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529346654	chr6:55623711-55623712	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144501971	chr6:55623738-55623739	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370552267	chr6:55623768-55623769	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200559487	chr6:55623778-55623779	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202085587	chr6:55623821-55623822	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534656598	chr6:55623844-55623845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180770505	chr6:55623858-55623859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571202197	chr6:55623886-55623887	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184900087	chr6:55623887-55623888	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556717308	chr6:55623895-55623896	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202201755	chr6:55623944-55623945	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557130	chr6:55623966-55623967	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs594910	chr6:55623971-55623972	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557162	chr6:55623978-55623979	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111885475	chr6:55623979-55623980	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368744034	chr6:55623982-55623983	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72868839	chr6:55624017-55624018	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189414201	chr6:55624071-55624072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545018311	chr6:55624111-55624112	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564913582	chr6:55624139-55624140	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535914049	chr6:55624197-55624198	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9396155	chr6:55624202-55624203	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143640272	chr6:55624213-55624214	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544153874	chr6:55624235-55624236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563846768	chr6:55624249-55624250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529454033	chr6:55624375-55624376	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566787609	chr6:55624466-55624467	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181166447	chr6:55624490-55624491	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559748270	chr6:55624502-55624503	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55612600-55623000	Weak transcription	Fetal Heart	heart
2	chr6:55616200-55627800	Weak transcription	Fetal Brain Male	brain
3	chr6:55618200-55672400	Weak transcription	Placenta	Placenta
4	chr6:55619600-55624600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:55619800-55626000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:55620200-55623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:55620200-55623800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:55621400-55624600	Enhancers	Hela-S3	cervix
9	chr6:55621800-55625000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:55621800-55626800	Strong transcription	Fetal Lung	lung
11	chr6:55622000-55624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:55622800-55623000	Enhancers	NHDF-Ad	bronchial
13	chr6:55622800-55623200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:55622800-55624000	Enhancers	NHEK	skin
15	chr6:55622800-55624400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:55622800-55624600	Enhancers	HMEC	breast
17	chr6:55623000-55623200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:55623000-55623200	ZNF genes & repeats	Fetal Heart	heart
19	chr6:55623000-55623200	Flanking Active TSS	NHDF-Ad	bronchial
20	chr6:55623000-55623800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:55623000-55624000	Enhancers	Osteobl	bone
22	chr6:55623000-55624600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:55623000-55624600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:55623200-55623800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr6:55623200-55624600	Enhancers	NHDF-Ad	bronchial
26	chr6:55623200-55631400	Weak transcription	Fetal Heart	heart
27	chr6:55623400-55623800	Enhancers	A549	lung
28	chr6:55623400-55624000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:55623600-55624000	Enhancers	HSMM	muscle
30	chr6:55623800-55624000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:55623800-55624600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:55623800-55628200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:55624400-55625400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:55624600-55637200	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links