Variant report

Variant	esv3432269
Chromosome Location	chr6:120050203-120054001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:120049940..120052686-chr6:120053147..120056088,2	MCF-7	breast:
2	chr6:119669409..119670950-chr6:120053977..120056480,2	MCF-7	breast:
3	chr6:119668779..119670859-chr6:120052634..120055044,2	MCF-7	breast:
4	chr6:119668797..119671749-chr6:120049914..120051588,2	MCF-7	breast:
5	chr6:119670566..119673192-chr6:120049560..120051821,2	MCF-7	breast:
6	chr6:120048345..120051007-chr6:120058358..120060686,2	MCF-7	breast:
7	chr6:120049940..120052686-chr6:120053147..120056088,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111885	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186491343	chr6:120050236-120050237	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558799439	chr6:120050272-120050273	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190176793	chr6:120050300-120050301	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12205746	chr6:120050310-120050311	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114388035	chr6:120050345-120050346	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150045679	chr6:120050426-120050427	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2748265	chr6:120050494-120050495	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12193735	chr6:120050591-120050592	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576062267	chr6:120050633-120050634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545337394	chr6:120050652-120050653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565212091	chr6:120050674-120050675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79919670	chr6:120050695-120050696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114939544	chr6:120050700-120050701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561125289	chr6:120050702-120050703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530144204	chr6:120050727-120050728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs56350013	chr6:120050734-120050735	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181614281	chr6:120050824-120050825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144969437	chr6:120050832-120050833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565588549	chr6:120050846-120050847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187219064	chr6:120050863-120050864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553445312	chr6:120050907-120050908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566275626	chr6:120050952-120050953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535324968	chr6:120050994-120050995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554906376	chr6:120050996-120050997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568600962	chr6:120051022-120051023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78136792	chr6:120051140-120051141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34880164	chr6:120051163-120051164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369091293	chr6:120051209-120051210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556259206	chr6:120051221-120051222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79234376	chr6:120051230-120051231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78466800	chr6:120051235-120051236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571752228	chr6:120051242-120051243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369954016	chr6:120051247-120051248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560866029	chr6:120051263-120051264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190902168	chr6:120051288-120051289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562628024	chr6:120051353-120051354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2024737	chr6:120051449-120051450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368456232	chr6:120051469-120051470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75873987	chr6:120051526-120051527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138821146	chr6:120051584-120051585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140586968	chr6:120051663-120051664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543527692	chr6:120051673-120051674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563477120	chr6:120051690-120051691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74775343	chr6:120051758-120051759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557392274	chr6:120051798-120051799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182376609	chr6:120051801-120051802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185433187	chr6:120051822-120051823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528792226	chr6:120051826-120051827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56915034	chr6:120051844-120051845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200971258	chr6:120051845-120051846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120048600-120050400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:120048600-120050400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:120048600-120050600	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:120049200-120050400	Active TSS	Osteobl	bone
5	chr6:120049400-120050600	Enhancers	Dnd41	blood
6	chr6:120049400-120055200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:120049800-120050400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:120049800-120050400	Enhancers	GM12878-XiMat	blood
9	chr6:120050400-120050600	Flanking Active TSS	Osteobl	bone
10	chr6:120050600-120057400	Weak transcription	Primary hematopoietic stem cells	blood

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