Variant report

Variant	esv3379217
Chromosome Location	chr6:164048812-164050810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164005924..164008008-chr6:164050205..164053117,2	MCF-7	breast:
2	chr6:164046203..164050114-chr6:164051224..164053273,3	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541405053	chr6:164048835-164048836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115922728	chr6:164048859-164048860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377559615	chr6:164048869-164048870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62436724	chr6:164048877-164048878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543588521	chr6:164048883-164048884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142461726	chr6:164048884-164048885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529028629	chr6:164048888-164048889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542420189	chr6:164048891-164048892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117138830	chr6:164048956-164048957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112118346	chr6:164048964-164048965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181567718	chr6:164048970-164048971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185297362	chr6:164048974-164048975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190148577	chr6:164048996-164048997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550664852	chr6:164049003-164049004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567371492	chr6:164049038-164049039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115703415	chr6:164049042-164049043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142674004	chr6:164049065-164049066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566359042	chr6:164049066-164049067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74821067	chr6:164049080-164049081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558118657	chr6:164049121-164049122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376740674	chr6:164049135-164049136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538273445	chr6:164049153-164049154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151313747	chr6:164049199-164049200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9458868	chr6:164049222-164049223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556991162	chr6:164049237-164049238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34194488	chr6:164049245-164049246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542406023	chr6:164049260-164049261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80221513	chr6:164049284-164049285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573075154	chr6:164049323-164049324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181186984	chr6:164049343-164049344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140457667	chr6:164049347-164049348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530377032	chr6:164049349-164049350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550604761	chr6:164049360-164049361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150393977	chr6:164049364-164049365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75534740	chr6:164049487-164049488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138354158	chr6:164049524-164049525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1540949	chr6:164049551-164049552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550522690	chr6:164049592-164049593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535237292	chr6:164049607-164049608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545773708	chr6:164049617-164049618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551759063	chr6:164049648-164049649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201956055	chr6:164049652-164049653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377435849	chr6:164049653-164049654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552541197	chr6:164049659-164049660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548243327	chr6:164049660-164049661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185579465	chr6:164049668-164049669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12181670	chr6:164049672-164049673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12181334	chr6:164049678-164049679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373193540	chr6:164049685-164049686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12179596	chr6:164049686-164049687	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
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164047000-164049200	Enhancers	GM12878-XiMat	blood
2	chr6:164048000-164061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:164048800-164049000	Enhancers	Fetal Muscle Leg	muscle
4	chr6:164048800-164049200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:164048800-164049200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:164050400-164055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:164050600-164051000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:164050600-164051400	ZNF genes & repeats	Gastric	stomach
9	chr6:164050600-164051400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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