Variant report

Variant	nsv1019267
Chromosome Location	chr6:133912335-133975187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:133925722..133928960-chr6:133929077..133930766,3	K562	blood:
2	chr6:133925722..133928960-chr6:133929077..133930766,3	K562	blood:
3	chr6:133929403..133932343-chr6:133932388..133934855,2	K562	blood:
4	chr6:133929403..133932343-chr6:133932388..133934855,2	K562	blood:

Extended variants
information (count: 2275 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2275 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2677812	chr6:133912335-133912336	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113294410	chr6:133912410-133912411	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141120787	chr6:133912411-133912412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575170701	chr6:133912437-133912438	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73548873	chr6:133912444-133912445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577854502	chr6:133912525-133912526	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561193224	chr6:133912526-133912527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574772041	chr6:133912591-133912592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73548875	chr6:133912615-133912616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560112737	chr6:133912715-133912716	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374938083	chr6:133912794-133912795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543605613	chr6:133912815-133912816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552400343	chr6:133912816-133912817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2636610	chr6:133912817-133912818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34529530	chr6:133912882-133912883	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531640941	chr6:133912963-133912964	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs73776069	chr6:133912984-133912985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2636609	chr6:133913007-133913008	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534243349	chr6:133913049-133913050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548021386	chr6:133913055-133913056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577848806	chr6:133913088-133913089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545696507	chr6:133913097-133913098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570964478	chr6:133913101-133913102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374039908	chr6:133913153-133913154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73548877	chr6:133913194-133913195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558413688	chr6:133913209-133913210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568948913	chr6:133913242-133913243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537872113	chr6:133913267-133913268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554622700	chr6:133913313-133913314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545009339	chr6:133913314-133913315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141305775	chr6:133913319-133913320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527586844	chr6:133913350-133913351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376038515	chr6:133913360-133913361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35448403	chr6:133913404-133913405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34294496	chr6:133913413-133913414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540538002	chr6:133913419-133913420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527516343	chr6:133913462-133913463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553996368	chr6:133913486-133913487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577005852	chr6:133913504-133913505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548620370	chr6:133913511-133913512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373340582	chr6:133913527-133913528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528143199	chr6:133913559-133913560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12204957	chr6:133913571-133913572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192582748	chr6:133913590-133913591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146143602	chr6:133913614-133913615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548021639	chr6:133913628-133913629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369188255	chr6:133913657-133913658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182417070	chr6:133913752-133913753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187807239	chr6:133913760-133913761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192687615	chr6:133913786-133913787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133910400-133913400	Weak transcription	Fetal Lung	lung
2	chr6:133911200-133914000	Enhancers	HMEC	breast
3	chr6:133911400-133912400	Enhancers	Fetal Kidney	kidney
4	chr6:133911400-133912800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:133911400-133913800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:133911400-133913800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:133911600-133912400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:133911600-133912600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:133911600-133912800	Enhancers	Hela-S3	cervix
10	chr6:133911600-133913600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:133911600-133914000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:133911800-133912400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:133911800-133912400	Enhancers	Fetal Stomach	stomach
14	chr6:133911800-133912600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:133911800-133913000	Flanking Active TSS	A549	lung
16	chr6:133911800-133913000	Enhancers	NHLF	lung
17	chr6:133912000-133912400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:133912000-133912400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:133912000-133913600	Enhancers	NHEK	skin
20	chr6:133912000-133913800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:133912000-133913800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:133912200-133912400	Enhancers	HSMM	muscle
23	chr6:133912200-133912600	Flanking Active TSS	Osteobl	bone
24	chr6:133912200-133912800	Enhancers	NHDF-Ad	bronchial
25	chr6:133912400-133913800	Weak transcription	Fetal Stomach	stomach
26	chr6:133912400-133915800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:133912400-133925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:133912600-133913600	Enhancers	Osteobl	bone
29	chr6:133912600-133915400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:133912600-133916800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:133912800-133913200	Weak transcription	Hela-S3	cervix
32	chr6:133912800-133913800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:133912800-133915800	Weak transcription	NHDF-Ad	bronchial
34	chr6:133913000-133914800	Enhancers	A549	lung
35	chr6:133913000-133916800	Weak transcription	NHLF	lung
36	chr6:133913200-133914000	Enhancers	Hela-S3	cervix
37	chr6:133913400-133917400	Enhancers	Fetal Lung	lung
38	chr6:133913600-133915400	Weak transcription	Osteobl	bone
39	chr6:133913600-133916200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:133913800-133914000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:133913800-133915600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:133913800-133915800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:133913800-133917000	Enhancers	Fetal Stomach	stomach
44	chr6:133914000-133915200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:133914000-133915800	Weak transcription	Hela-S3	cervix
46	chr6:133914800-133915200	Weak transcription	A549	lung
47	chr6:133915200-133917400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr6:133915200-133917400	Enhancers	A549	lung
49	chr6:133915400-133916000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:133915400-133917000	Enhancers	Osteobl	bone

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