Variant report

Variant	esv3416280
Chromosome Location	chr6:140576308-140594282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166545251..166548120-chr6:140575352..140577699,2	MCF-7	breast:
2	chr6:140566708..140568790-chr6:140577042..140579091,2	K562	blood:
3	chr6:140588106..140590229-chr6:140592082..140594380,2	K562	blood:
4	chr6:140588106..140590229-chr6:140592082..140594380,2	K562	blood:
5	chr6:140591977..140594377-chr6:140599349..140601763,2	K562	blood:

Extended variants
information (count: 626 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191771769	chr6:140576316-140576317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561527671	chr6:140576323-140576324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528981488	chr6:140576334-140576335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558674898	chr6:140576398-140576399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550654488	chr6:140576404-140576405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562481742	chr6:140576421-140576422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568163136	chr6:140576450-140576451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575700715	chr6:140576505-140576506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73776105	chr6:140576519-140576520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185332162	chr6:140576546-140576547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534091403	chr6:140576615-140576616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190090680	chr6:140576637-140576638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182150423	chr6:140576752-140576753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567414074	chr6:140576777-140576778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76674064	chr6:140576858-140576859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185581843	chr6:140576886-140576887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571388471	chr6:140576904-140576905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577335997	chr6:140576930-140576931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538684329	chr6:140576968-140576969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553738821	chr6:140576981-140576982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544711681	chr6:140576997-140576998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189241833	chr6:140577045-140577046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539669562	chr6:140577049-140577050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180961633	chr6:140577095-140577096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558577158	chr6:140577114-140577115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372223346	chr6:140577119-140577120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184985896	chr6:140577147-140577148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12196199	chr6:140577172-140577173	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144595052	chr6:140577204-140577205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544345554	chr6:140577299-140577300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112080106	chr6:140577310-140577311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186791971	chr6:140577363-140577364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372970874	chr6:140577384-140577385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531985049	chr6:140577392-140577393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533043885	chr6:140577403-140577404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368201348	chr6:140577408-140577409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116786764	chr6:140577410-140577411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575058859	chr6:140577467-140577468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541165858	chr6:140577514-140577515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560860951	chr6:140577570-140577571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527602255	chr6:140577630-140577631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574513519	chr6:140577662-140577663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369270434	chr6:140577731-140577732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567372705	chr6:140577768-140577769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531432776	chr6:140577782-140577783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549552783	chr6:140577808-140577809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571444704	chr6:140577898-140577899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191639522	chr6:140577906-140577907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553751281	chr6:140577967-140577968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566021571	chr6:140577991-140577992	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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 myeloid leukemia	21251322	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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140573800-140577600	Weak transcription	K562	blood
2	chr6:140576600-140578800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:140577200-140578000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:140577200-140578000	Enhancers	Hela-S3	cervix
5	chr6:140577200-140578400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:140577400-140578000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:140577400-140578000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:140577600-140578000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:140577600-140578600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:140577600-140578800	Enhancers	K562	blood
11	chr6:140577800-140578400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:140578000-140578400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:140578400-140578800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:140578400-140578800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:140578400-140579400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:140578800-140579200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:140578800-140580800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:140578800-140584000	Weak transcription	K562	blood
19	chr6:140579200-140583000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:140579400-140583000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:140580800-140581600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:140583000-140583400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr6:140583200-140583400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:140583400-140584400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:140583400-140584400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:140584000-140584400	Enhancers	K562	blood
27	chr6:140584400-140585200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:140584400-140586400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:140584800-140587200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:140588000-140591200	Weak transcription	Right Ventricle	heart
31	chr6:140588200-140588400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:140588600-140591000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:140590800-140591200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:140590800-140591200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:140590800-140591400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:140591000-140591400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:140591000-140591400	Enhancers	Adipose Nuclei	Adipose
38	chr6:140591000-140591400	Enhancers	Ovary	ovary
39	chr6:140591000-140591400	Enhancers	HMEC	breast
40	chr6:140591000-140591400	Enhancers	NHDF-Ad	bronchial
41	chr6:140591000-140591600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:140591000-140591600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:140591000-140591800	Enhancers	NHEK	skin
44	chr6:140591000-140592200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:140591000-140593000	Enhancers	GM12878-XiMat	blood
46	chr6:140591200-140591400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:140591200-140591400	Enhancers	HUVEC	blood vessel
48	chr6:140591200-140591600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:140591200-140591600	Enhancers	Right Atrium	heart
50	chr6:140591200-140591600	Enhancers	Right Ventricle	heart

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