Variant report

Variant	nsv886682
Chromosome Location	chr6:133892208-133943732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1935 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1935 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2327358	chr6:133892208-133892209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546494159	chr6:133892222-133892223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150551402	chr6:133892224-133892225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370663907	chr6:133892348-133892349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576233466	chr6:133892373-133892374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541979820	chr6:133892389-133892390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143338445	chr6:133892393-133892394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374273407	chr6:133892397-133892398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547109165	chr6:133892409-133892410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560691609	chr6:133892411-133892412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139979854	chr6:133892419-133892420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578205969	chr6:133892473-133892474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561902848	chr6:133892486-133892487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546305569	chr6:133892520-133892521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75758398	chr6:133892622-133892623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560077918	chr6:133892710-133892711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200860342	chr6:133892735-133892736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531977937	chr6:133892741-133892742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559436493	chr6:133892795-133892796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569123314	chr6:133892803-133892804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529301822	chr6:133892829-133892830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377140955	chr6:133892861-133892862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143501387	chr6:133892885-133892886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78210275	chr6:133892893-133892894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28546120	chr6:133892894-133892895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550851731	chr6:133892906-133892907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368430707	chr6:133892907-133892908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374297644	chr6:133892922-133892923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548393523	chr6:133892934-133892935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568491360	chr6:133892948-133892949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143453824	chr6:133892972-133892973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11757578	chr6:133892973-133892974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9321406	chr6:133892991-133892992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539404856	chr6:133893046-133893047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369445208	chr6:133893047-133893048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556450163	chr6:133893050-133893051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180925344	chr6:133893106-133893107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573854880	chr6:133893123-133893124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146750165	chr6:133893132-133893133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374765912	chr6:133893147-133893148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561924056	chr6:133893148-133893149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9493645	chr6:133893175-133893176	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540338465	chr6:133893260-133893261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34160489	chr6:133893359-133893360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559960553	chr6:133893419-133893420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62427495	chr6:133893430-133893431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186121428	chr6:133893431-133893432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368479610	chr6:133893436-133893437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552158706	chr6:133893573-133893574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562809331	chr6:133893584-133893585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133891000-133893000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:133891200-133893000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:133891200-133895200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:133891200-133895200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:133891200-133895200	Weak transcription	NHDF-Ad	bronchial
6	chr6:133891200-133895200	Weak transcription	Osteobl	bone
7	chr6:133891200-133895400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:133891400-133895200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:133891600-133895200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:133891800-133893200	Enhancers	Fetal Lung	lung
11	chr6:133892200-133895400	Weak transcription	A549	lung
12	chr6:133893000-133893200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:133893000-133893400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:133893000-133893600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:133893200-133893400	Enhancers	Fetal Stomach	stomach
16	chr6:133893200-133894000	Weak transcription	Fetal Lung	lung
17	chr6:133893400-133895200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:133893600-133893800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:133893600-133894800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:133893800-133898400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:133894800-133896000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:133895200-133895400	Enhancers	Fetal Lung	lung
23	chr6:133895200-133895600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:133895200-133895600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:133895200-133895600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:133895200-133895600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:133895200-133895600	Enhancers	NHDF-Ad	bronchial
28	chr6:133895200-133895800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:133895200-133895800	Enhancers	Osteobl	bone
30	chr6:133895400-133895600	Enhancers	A549	lung
31	chr6:133895400-133895800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:133895600-133908000	Weak transcription	NHDF-Ad	bronchial
33	chr6:133898000-133898200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:133898600-133911400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:133899000-133899400	Enhancers	Psoas Muscle	Psoas
36	chr6:133899000-133899400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:133904800-133909800	Enhancers	Fetal Lung	lung
38	chr6:133905400-133908200	Weak transcription	NHLF	lung
39	chr6:133906000-133908800	Weak transcription	HSMM	muscle
40	chr6:133906000-133912000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:133906200-133906400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:133906200-133906800	Enhancers	A549	lung
43	chr6:133906600-133907200	Enhancers	Fetal Kidney	kidney
44	chr6:133906600-133908200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:133906800-133907200	Weak transcription	A549	lung
46	chr6:133907200-133907400	Enhancers	A549	lung
47	chr6:133907200-133911400	Weak transcription	Fetal Kidney	kidney
48	chr6:133907400-133908000	Weak transcription	A549	lung
49	chr6:133907800-133908400	Weak transcription	HSMMtube	muscle
50	chr6:133908000-133908200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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