Variant report

Variant	nsv1021271
Chromosome Location	chr6:140779526-140849815
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:
2	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
3	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
4	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
5	chr6:140770834..140773454-chr6:140778154..140780325,2	K562	blood:
6	chr6:140784693..140787104-chr6:140862436..140865018,2	MCF-7	breast:
7	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
8	chr6:140781738..140784199-chr6:140901701..140903255,2	MCF-7	breast:
9	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
10	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
11	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
12	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
13	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
14	chr6:140783571..140785606-chr6:140860300..140863164,2	MCF-7	breast:
15	chr6:140791961..140793647-chr6:140795431..140798241,2	K562	blood:
16	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
17	chr6:140786057..140787646-chr6:140788121..140789995,2	MCF-7	breast:
18	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
19	chr6:140782673..140785251-chr6:140787404..140790151,3	K562	blood:
20	chr6:140807152..140810053-chr6:140862553..140864206,2	MCF-7	breast:
21	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
22	chr6:140783720..140785500-chr6:140814959..140816884,2	MCF-7	breast:
23	chr6:140784119..140785901-chr6:140788194..140790332,2	MCF-7	breast:
24	chr6:140815482..140817234-chr6:140819152..140821288,2	MCF-7	breast:
25	chr6:140837143..140838822-chr6:140841143..140842931,2	K562	blood:
26	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
27	chr6:140241965..140244669-chr6:140782881..140785815,2	MCF-7	breast:
28	chr6:140792430..140794846-chr6:140795298..140797502,2	K562	blood:
29	chr6:140824312..140827141-chr6:140827380..140829183,2	K562	blood:
30	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
31	chr6:140833959..140835825-chr6:140838892..140841501,3	K562	blood:
32	chr6:140784115..140786864-chr6:140789225..140791955,2	MCF-7	breast:
33	chr6:140763859..140766809-chr6:140781953..140784173,2	MCF-7	breast:
34	chr6:140799634..140801226-chr6:140802849..140804634,2	K562	blood:

No data

Extended variants
information (count: 1452 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1452 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561461860	chr6:140779526-140779527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528940324	chr6:140779538-140779539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550192447	chr6:140779575-140779576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562143930	chr6:140779585-140779586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544151750	chr6:140779629-140779630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551398497	chr6:140779801-140779802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199769998	chr6:140779839-140779840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386706433	chr6:140779847-140779848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10590566	chr6:140779848-140779849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386706434	chr6:140779849-140779850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71887225	chr6:140779851-140779852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367929219	chr6:140779853-140779854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11279256	chr6:140779856-140779857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200898238	chr6:140779860-140779861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533761088	chr6:140779869-140779870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549180785	chr6:140779871-140779872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187421437	chr6:140779922-140779923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62429828	chr6:140779972-140779973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538338511	chr6:140780037-140780038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546364945	chr6:140780055-140780056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9495717	chr6:140780078-140780079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147229237	chr6:140780080-140780081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192070200	chr6:140780190-140780191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577966991	chr6:140780191-140780192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538975337	chr6:140780196-140780197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184182454	chr6:140780204-140780205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78387315	chr6:140780210-140780211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572666464	chr6:140780230-140780231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9495718	chr6:140780231-140780232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566590852	chr6:140780244-140780245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368455198	chr6:140780274-140780275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371625414	chr6:140780280-140780281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188732614	chr6:140780288-140780289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17069962	chr6:140780344-140780345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573451710	chr6:140780358-140780359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536835011	chr6:140780421-140780422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553629571	chr6:140780438-140780439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192805354	chr6:140780455-140780456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184117123	chr6:140780534-140780535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569133524	chr6:140780541-140780542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368888245	chr6:140780560-140780561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140292366	chr6:140780578-140780579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12202231	chr6:140780603-140780604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188573373	chr6:140780612-140780613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191528622	chr6:140780622-140780623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549244051	chr6:140780626-140780627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557957143	chr6:140780639-140780640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545137029	chr6:140780669-140780670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567459179	chr6:140780686-140780687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537998148	chr6:140780697-140780698	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
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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140774200-140783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140777600-140780600	Weak transcription	NHLF	lung
3	chr6:140778800-140779600	Enhancers	Fetal Heart	heart
4	chr6:140779000-140779600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:140779200-140779600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:140779600-140779800	Enhancers	Rectal Smooth Muscle	rectum
7	chr6:140779800-140784000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:140780200-140780600	Enhancers	HSMMtube	muscle
9	chr6:140780200-140780800	Enhancers	NHEK	skin
10	chr6:140780600-140780800	Enhancers	NHLF	lung
11	chr6:140780600-140783200	Weak transcription	HSMMtube	muscle
12	chr6:140780800-140782400	Weak transcription	NHLF	lung
13	chr6:140780800-140783200	Weak transcription	NHEK	skin
14	chr6:140781400-140783800	Enhancers	Liver	Liver
15	chr6:140781600-140782000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:140781800-140782000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr6:140782000-140783400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:140782400-140783000	Enhancers	Ovary	ovary
19	chr6:140782400-140783600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:140782400-140785200	Enhancers	NHLF	lung
21	chr6:140782400-140786000	Enhancers	NHDF-Ad	bronchial
22	chr6:140782600-140783200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:140782600-140784800	Enhancers	Adipose Nuclei	Adipose
24	chr6:140782800-140784800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:140783000-140783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:140783000-140783200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:140783000-140784000	Weak transcription	Ovary	ovary
28	chr6:140783000-140784800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:140783000-140785200	Enhancers	Osteobl	bone
30	chr6:140783000-140786200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:140783200-140783600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr6:140783200-140783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:140783200-140784000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:140783200-140784000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:140783200-140784200	Enhancers	NHEK	skin
36	chr6:140783200-140784400	Enhancers	Hela-S3	cervix
37	chr6:140783200-140784400	Enhancers	HMEC	breast
38	chr6:140783200-140784800	Enhancers	Fetal Lung	lung
39	chr6:140783200-140785000	Enhancers	HSMMtube	muscle
40	chr6:140783200-140785200	Enhancers	HSMM	muscle
41	chr6:140783200-140785800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:140783400-140784400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:140783400-140785000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:140783400-140785000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:140783400-140785200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:140783600-140784000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:140783600-140784600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:140783600-140784600	Enhancers	NH-A	brain
49	chr6:140783600-140784800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:140783600-140785000	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links