Variant report

Variant	esv275472
Chromosome Location	chr6:163619906-163623619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163621041..163623760-chr6:163631210..163632977,2	MCF-7	breast:
2	chr6:163619302..163621852-chr6:163683443..163685486,2	MCF-7	breast:
3	chr6:163619784..163621705-chr6:163683976..163685917,2	MCF-7	breast:

Extended variants
information (count: 165 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6916143	chr6:163619906-163619907	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111745178	chr6:163619914-163619915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184453987	chr6:163619938-163619939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544366592	chr6:163619940-163619941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528114870	chr6:163619971-163619972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6935990	chr6:163619977-163619978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189330448	chr6:163620026-163620027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182321753	chr6:163620094-163620095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6937505	chr6:163620129-163620130	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141814632	chr6:163620202-163620203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6937679	chr6:163620207-163620208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147274658	chr6:163620220-163620221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548050804	chr6:163620345-163620346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77070031	chr6:163620373-163620374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140805645	chr6:163620390-163620391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186524923	chr6:163620405-163620406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6917118	chr6:163620409-163620410	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188948690	chr6:163620412-163620413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111919882	chr6:163620415-163620416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566700396	chr6:163620424-163620425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546196981	chr6:163620425-163620426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544794766	chr6:163620444-163620445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533732976	chr6:163620452-163620453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74583778	chr6:163620468-163620469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375735478	chr6:163620510-163620511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539947750	chr6:163620513-163620514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181639251	chr6:163620563-163620564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9456841	chr6:163620616-163620617	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185537119	chr6:163620640-163620641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562790769	chr6:163620784-163620785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567768458	chr6:163620800-163620801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9458742	chr6:163620813-163620814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550536645	chr6:163620879-163620880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538247759	chr6:163620880-163620881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9458743	chr6:163620903-163620904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190239360	chr6:163620913-163620914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574883535	chr6:163620936-163620937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73784526	chr6:163620940-163620941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73784527	chr6:163621025-163621026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542382974	chr6:163621041-163621042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558761766	chr6:163621051-163621052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183199595	chr6:163621052-163621053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554291474	chr6:163621136-163621137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569217180	chr6:163621208-163621209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538147720	chr6:163621229-163621230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371169219	chr6:163621233-163621234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147188739	chr6:163621249-163621250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574912687	chr6:163621255-163621256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60020523	chr6:163621288-163621289	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs71558016	chr6:163621311-163621312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
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
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163602600-163622600	Weak transcription	Right Ventricle	heart
2	chr6:163608000-163632800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:163614000-163621200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:163616400-163628800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:163617800-163620400	Weak transcription	Brain Substantia Nigra	brain
6	chr6:163617800-163623800	Weak transcription	Brain Anterior Caudate	brain
7	chr6:163618000-163620400	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:163618800-163620200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:163618800-163620200	Enhancers	Fetal Heart	heart
10	chr6:163619400-163620600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr6:163619400-163620800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:163619400-163620800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:163619800-163620000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:163619800-163621400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:163620000-163622000	Enhancers	Placenta	Placenta
16	chr6:163620200-163623400	Weak transcription	Fetal Heart	heart
17	chr6:163620400-163620800	Enhancers	Brain Hippocampus Middle	brain
18	chr6:163620400-163620800	Enhancers	Brain Substantia Nigra	brain
19	chr6:163620600-163620800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:163620800-163621200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:163620800-163622800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:163620800-163623600	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:163621200-163622200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:163621200-163622600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:163621600-163622000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:163621800-163622000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:163622600-163622800	Enhancers	Right Ventricle	heart
28	chr6:163622800-163630200	Weak transcription	Right Ventricle	heart
29	chr6:163623000-163623200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:163623400-163623800	Enhancers	Fetal Heart	heart
31	chr6:163623600-163624000	Enhancers	Brain Hippocampus Middle	brain

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