Variant report

Variant	nsv533053
Chromosome Location	chr6:100883636-100911512
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:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:100876201..100879163-chr6:100881481..100884143,2	K562	blood:
2	chr6:100885282..100888001-chr6:100892746..100894898,2	K562	blood:
3	chr6:100894013..100895525-chr6:100899314..100902220,2	MCF-7	breast:
4	chr6:100895834..100897830-chr6:100900625..100903178,2	K562	blood:
5	chr6:100887185..100889268-chr6:100914294..100916955,2	MCF-7	breast:
6	chr6:100887121..100888891-chr6:100901432..100903601,2	MCF-7	breast:
7	chr6:100906855..100909524-chr6:100935004..100937170,2	MCF-7	breast:
8	chr6:100894013..100895525-chr6:100899314..100902220,2	MCF-7	breast:
9	chr6:100907831..100909801-chr6:100918117..100920075,2	MCF-7	breast:
10	chr6:100908327..100910621-chr6:100914553..100916127,2	MCF-7	breast:
11	chr6:100883478..100885403-chr6:100886324..100888180,2	K562	blood:
12	chr6:100895834..100897830-chr6:100900574..100903178,3	K562	blood:
13	chr6:100883478..100885403-chr6:100886324..100888180,2	K562	blood:
14	chr6:100887121..100888891-chr6:100901432..100903601,2	MCF-7	breast:
15	chr6:100895834..100897830-chr6:100900574..100903178,3	K562	blood:
16	chr4:122383570..122384412-chr6:100888804..100889304,2	MCF-7	breast:
17	chr6:100895834..100897830-chr6:100900625..100903178,2	K562	blood:
18	chr6:100885282..100888001-chr6:100892746..100894898,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRDM13-4	chr6:100885132-100885360	ENSG00000228082.1

No data

Extended variants
information (count: 1019 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1019 , 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	rs552853752	chr6:100883639-100883640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572005257	chr6:100883657-100883658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181753087	chr6:100883668-100883669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78128642	chr6:100883674-100883675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534530051	chr6:100883699-100883700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544073342	chr6:100883702-100883703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556251717	chr6:100883713-100883714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574433209	chr6:100883739-100883740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541824813	chr6:100883759-100883760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12660758	chr6:100883787-100883788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144965684	chr6:100883788-100883789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3778032	chr6:100883851-100883852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs544375392	chr6:100883859-100883860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3836990	chr6:100883870-100883871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370159033	chr6:100883871-100883872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397802394	chr6:100883886-100883887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2895004	chr6:100883887-100883888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115159695	chr6:100883909-100883910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577548654	chr6:100883991-100883992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564767019	chr6:100883999-100884000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36062404	chr6:100884007-100884008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531964017	chr6:100884010-100884011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80180114	chr6:100884131-100884132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148307986	chr6:100884163-100884164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529342990	chr6:100884191-100884192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186979094	chr6:100884219-100884220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191394347	chr6:100884227-100884228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539435935	chr6:100884231-100884232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140494955	chr6:100884267-100884268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570634092	chr6:100884390-100884391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538079223	chr6:100884393-100884394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562587193	chr6:100884473-100884474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183053203	chr6:100884499-100884500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536365879	chr6:100884562-100884563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574495967	chr6:100884577-100884578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554355270	chr6:100884580-100884581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541907301	chr6:100884619-100884620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58593533	chr6:100884633-100884634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576373678	chr6:100884655-100884656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150442489	chr6:100884664-100884665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572118537	chr6:100884834-100884835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112695864	chr6:100884848-100884849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186471348	chr6:100884881-100884882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9390379	chr6:100884885-100884886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544017908	chr6:100884889-100884890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562097670	chr6:100884894-100884895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115869367	chr6:100884953-100884954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189802795	chr6:100884955-100884956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183120171	chr6:100884957-100884958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547524979	chr6:100885002-100885003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD

Chromatin state (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100862200-100890600	Weak transcription	Adipose Nuclei	Adipose
2	chr6:100863000-100894600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:100864000-100887000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:100867400-100889000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:100875400-100890800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:100875600-100883800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:100875600-100891000	Weak transcription	HSMM	muscle
8	chr6:100880800-100883800	Weak transcription	Pancreas	Pancrea
9	chr6:100881800-100883800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:100882000-100884000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:100882000-100884000	Enhancers	A549	lung
12	chr6:100882000-100884400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:100882200-100883800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:100882400-100884000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:100882600-100888600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:100882800-100883800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:100882800-100894200	Weak transcription	Psoas Muscle	Psoas
18	chr6:100883200-100884200	Enhancers	HSMMtube	muscle
19	chr6:100883800-100884000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:100883800-100884000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:100883800-100884000	Enhancers	Gastric	stomach
22	chr6:100883800-100884200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:100883800-100884200	Enhancers	Pancreas	Pancrea
24	chr6:100884200-100888000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:100884200-100894400	Weak transcription	Pancreas	Pancrea
26	chr6:100884200-100895400	Weak transcription	HSMMtube	muscle
27	chr6:100884400-100895000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:100886800-100888200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:100887000-100887600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:100887600-100890800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:100888000-100889000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:100888200-100888600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr6:100888600-100889000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:100888600-100894200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:100889000-100889400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:100889000-100889400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:100889000-100890800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:100889400-100890000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:100889400-100893600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:100890000-100891400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:100890800-100891000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr6:100890800-100891600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:100890800-100891800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:100891000-100891200	Enhancers	HSMM	muscle
45	chr6:100891000-100892000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr6:100891200-100891400	Genic enhancers	HSMM	muscle
47	chr6:100891400-100891600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr6:100891400-100891600	Enhancers	NHDF-Ad	bronchial
49	chr6:100891400-100892200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:100891400-100895400	Weak transcription	HSMM	muscle

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