Variant report

Variant	nsv823856
Chromosome Location	chr6:147384260-147393263
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147378504..147381290-chr6:147384397..147386277,2	K562	blood:
2	chr6:147378504..147381290-chr6:147384397..147386277,3	K562	blood:
3	chr6:147386608..147388263-chr6:147393831..147395797,2	K562	blood:
4	chr6:147382092..147384361-chr6:147523816..147525733,2	MCF-7	breast:
5	chr6:147383491..147386446-chr6:147390287..147393281,3	K562	blood:
6	chr6:147392966..147394891-chr6:147523665..147525984,2	K562	blood:
7	chr6:147382391..147386290-chr6:147386680..147389719,4	K562	blood:
8	chr6:147386763..147389421-chr6:147393561..147396081,3	K562	blood:
9	chr6:147391588..147394483-chr6:147471638..147473937,2	K562	blood:
10	chr6:147383491..147386446-chr6:147390287..147393281,3	K562	blood:
11	chr6:147382391..147386290-chr6:147386680..147389719,4	K562	blood:
12	chr6:147385817..147387477-chr6:147399477..147401782,2	MCF-7	breast:
13	chr6:147391002..147395270-chr6:147401582..147403609,4	K562	blood:
14	chr6:147385371..147387733-chr6:147404798..147406908,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164506	chromatin interactions
ENSG00000233452	chromatin interactions

Extended variants
information (count: 346 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374524269	chr6:147384382-147384383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79489586	chr6:147384423-147384424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185948976	chr6:147384435-147384436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550894684	chr6:147384453-147384454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114374672	chr6:147384467-147384468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564459876	chr6:147384475-147384476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570804193	chr6:147384550-147384551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190363812	chr6:147384626-147384627	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183134337	chr6:147384658-147384659	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560479588	chr6:147384729-147384730	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17076616	chr6:147384749-147384750	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188173736	chr6:147384779-147384780	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539247430	chr6:147384788-147384789	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6929579	chr6:147384838-147384839	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561580530	chr6:147384860-147384861	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144391114	chr6:147384897-147384898	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570475535	chr6:147384934-147384935	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57977542	chr6:147384938-147384939	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190972166	chr6:147385023-147385024	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140875764	chr6:147385033-147385034	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566086190	chr6:147385093-147385094	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527498490	chr6:147385116-147385117	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144863282	chr6:147385143-147385144	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569121381	chr6:147385158-147385159	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537675247	chr6:147385160-147385161	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182805861	chr6:147385165-147385166	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578039169	chr6:147385193-147385194	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540681994	chr6:147385229-147385230	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554301803	chr6:147385243-147385244	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547246385	chr6:147385249-147385250	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73588137	chr6:147385308-147385309	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75385102	chr6:147385313-147385314	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532003545	chr6:147385423-147385424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545288580	chr6:147385450-147385451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565437584	chr6:147385456-147385457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532867403	chr6:147385479-147385480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546337125	chr6:147385505-147385506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566222724	chr6:147385507-147385508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62435584	chr6:147385515-147385516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147482509	chr6:147385519-147385520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535557567	chr6:147385567-147385568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538101630	chr6:147385654-147385655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113130141	chr6:147385722-147385723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571464198	chr6:147385769-147385770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560947480	chr6:147385792-147385793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76551787	chr6:147385795-147385796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377236264	chr6:147385835-147385836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76472646	chr6:147385885-147385886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574903239	chr6:147385887-147385888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142778768	chr6:147385907-147385908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Gastric cancer	17908304	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147375600-147384400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:147377400-147385000	Weak transcription	Pancreas	Pancrea
3	chr6:147380400-147384400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:147380400-147384600	Weak transcription	A549	lung
5	chr6:147380600-147384400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:147380600-147384400	Weak transcription	K562	blood
7	chr6:147380600-147384400	Weak transcription	NHDF-Ad	bronchial
8	chr6:147381000-147384600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:147382800-147384400	Weak transcription	HepG2	liver
10	chr6:147382800-147386800	Weak transcription	Stomach Mucosa	stomach
11	chr6:147384200-147385600	Enhancers	Osteobl	bone
12	chr6:147384400-147384600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:147384400-147384600	Enhancers	NHDF-Ad	bronchial
14	chr6:147384400-147384800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:147384400-147385000	Enhancers	HepG2	liver
16	chr6:147384400-147385200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:147384400-147385200	Enhancers	K562	blood
18	chr6:147384400-147385400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:147384400-147385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:147384400-147385400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:147384400-147385400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:147384400-147385400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:147384400-147385400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:147384400-147385400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:147384400-147385400	Enhancers	HSMM	muscle
26	chr6:147384400-147385400	Enhancers	NH-A	brain
27	chr6:147384400-147385400	Enhancers	NHEK	skin
28	chr6:147384400-147385600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:147384400-147385600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:147384400-147385600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:147384400-147385600	Enhancers	HMEC	breast
32	chr6:147384400-147385600	Enhancers	NHLF	lung
33	chr6:147384600-147385000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr6:147384600-147385200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:147384600-147385400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:147384600-147385400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:147384600-147385400	Enhancers	A549	lung
38	chr6:147384600-147385400	Enhancers	Hela-S3	cervix
39	chr6:147384600-147385400	Enhancers	HSMMtube	muscle
40	chr6:147384800-147385200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:147384800-147385200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:147385000-147385400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:147385000-147385400	Enhancers	Pancreas	Pancrea
44	chr6:147385000-147385600	Enhancers	NHDF-Ad	bronchial
45	chr6:147385200-147385600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:147385200-147386800	Weak transcription	K562	blood
47	chr6:147385400-147386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:147385400-147386400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:147385400-147386600	Weak transcription	Pancreas	Pancrea
50	chr6:147385400-147390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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