Variant report

Variant	esv3413206
Chromosome Location	chr6:126874609-126876907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140859048	chr6:126874611-126874612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574709643	chr6:126874612-126874613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541969725	chr6:126874618-126874619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560514718	chr6:126874640-126874641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528227933	chr6:126874642-126874643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546360646	chr6:126874676-126874677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564923071	chr6:126874755-126874756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187173720	chr6:126874808-126874809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199753417	chr6:126874810-126874811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550909159	chr6:126874812-126874813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569133331	chr6:126874893-126874894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536453909	chr6:126874902-126874903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113622354	chr6:126874940-126874941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150173152	chr6:126874944-126874945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117434348	chr6:126874973-126874974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558762160	chr6:126874975-126874976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116829292	chr6:126874985-126874986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114851344	chr6:126874994-126874995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547355796	chr6:126874997-126874998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539996768	chr6:126875010-126875011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374789132	chr6:126875026-126875027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73771488	chr6:126875085-126875086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554376690	chr6:126875229-126875230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572524044	chr6:126875252-126875253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540342801	chr6:126875254-126875255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377142023	chr6:126875356-126875357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5879807	chr6:126875371-126875372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374147110	chr6:126875379-126875380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6915874	chr6:126875380-126875381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5011046	chr6:126875394-126875395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57861160	chr6:126875396-126875397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1490386	chr6:126875398-126875399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71643798	chr6:126875408-126875409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71024756	chr6:126875418-126875419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111693836	chr6:126875421-126875422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113638803	chr6:126875422-126875423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9482755	chr6:126875423-126875424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371150206	chr6:126875424-126875425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564794723	chr6:126875469-126875470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371259360	chr6:126875475-126875476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532153440	chr6:126875500-126875501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1490385	chr6:126875521-126875522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs114436037	chr6:126875523-126875524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372102952	chr6:126875547-126875548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530058297	chr6:126875663-126875664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199989204	chr6:126875696-126875697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562524275	chr6:126875708-126875709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576152466	chr6:126875736-126875737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572428855	chr6:126875737-126875738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146951666	chr6:126875738-126875739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21958427	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:126872200-126880000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:126874400-126875000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:126874400-126875000	Enhancers	NHDF-Ad	bronchial
4	chr6:126874800-126875200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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