Variant report

Variant	nsv1024115
Chromosome Location	chr6:48609036-48648634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1038 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs963049	chr6:48609036-48609037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117337405	chr6:48609083-48609084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536720883	chr6:48609088-48609089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554798314	chr6:48609115-48609116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566647993	chr6:48609185-48609186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142457294	chr6:48609206-48609207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2996257	chr6:48609234-48609235	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548579032	chr6:48609246-48609247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568513326	chr6:48609252-48609253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577020309	chr6:48609275-48609276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544117512	chr6:48609343-48609344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111263155	chr6:48609355-48609356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372783286	chr6:48609356-48609357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116358525	chr6:48609359-48609360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148250708	chr6:48609365-48609366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537532258	chr6:48609392-48609393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560031047	chr6:48609400-48609401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368394014	chr6:48609438-48609439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528683147	chr6:48609439-48609440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540425122	chr6:48609515-48609516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565490418	chr6:48609578-48609579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1365720	chr6:48609579-48609580	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs9463432	chr6:48609595-48609596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189610952	chr6:48609598-48609599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530155410	chr6:48609677-48609678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548657743	chr6:48609708-48609709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3010511	chr6:48609800-48609801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs534308013	chr6:48609833-48609834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10498776	chr6:48609890-48609891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs180683970	chr6:48609897-48609898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78713753	chr6:48609943-48609944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537728708	chr6:48609969-48609970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556074880	chr6:48609970-48609971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3010510	chr6:48610001-48610002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541509613	chr6:48610054-48610055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10807395	chr6:48610061-48610062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs375989140	chr6:48610062-48610063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572005355	chr6:48610077-48610078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545904477	chr6:48610080-48610081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565314678	chr6:48610219-48610220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189340369	chr6:48610243-48610244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544910842	chr6:48610257-48610258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563219640	chr6:48610271-48610272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181885993	chr6:48610275-48610276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543699916	chr6:48610352-48610353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186529851	chr6:48610368-48610369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141332826	chr6:48610390-48610391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191795221	chr6:48610393-48610394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552670895	chr6:48610398-48610399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570298979	chr6:48610422-48610423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hodgkin''s lymphoma	17606441	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
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	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
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48609000-48609800	Enhancers	NH-A	brain
2	chr6:48609200-48610800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:48610800-48611600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:48618800-48619000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:48619000-48624200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:48620200-48621400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:48621400-48625800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:48624200-48625000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:48624600-48626800	Weak transcription	NHEK	skin
10	chr6:48625000-48626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:48625800-48626000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:48626600-48627200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:48626800-48627000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:48626800-48627200	Enhancers	NHEK	skin
15	chr6:48627200-48632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:48632400-48633000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:48632400-48633600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:48633600-48634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:48634600-48636200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:48638200-48639600	Enhancers	HMEC	breast
21	chr6:48639000-48639200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr6:48639000-48639400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:48639200-48639400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
24	chr6:48639200-48639600	Enhancers	Hela-S3	cervix
25	chr6:48639400-48639600	Bivalent Enhancer	Left Ventricle	heart
26	chr6:48641200-48641400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:48641400-48642200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:48642200-48643200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:48643000-48643600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:48643200-48643800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:48643600-48644000	Enhancers	Fetal Brain Female	brain
32	chr6:48643800-48644000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr6:48644000-48645600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:48645600-48646200	Enhancers	Pancreatic Islets	Pancreatic Islet

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