Variant report

Variant	esv3360878
Chromosome Location	chr6:54469043-54471091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:54468997-54469099	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000216347	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150898063	chr6:54469118-54469119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557703323	chr6:54469182-54469183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577523461	chr6:54469242-54469243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193241087	chr6:54469249-54469250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530630761	chr6:54469253-54469254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563187035	chr6:54469259-54469260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7341279	chr6:54469283-54469284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558997521	chr6:54469298-54469299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139374629	chr6:54469316-54469317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77041489	chr6:54469334-54469335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142930333	chr6:54469379-54469380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530213195	chr6:54469395-54469396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547488477	chr6:54469431-54469432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564427930	chr6:54469451-54469452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533717940	chr6:54469468-54469469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs118068416	chr6:54469488-54469489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540450367	chr6:54469501-54469502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570297681	chr6:54469511-54469512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536039354	chr6:54469519-54469520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549529765	chr6:54469524-54469525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565656017	chr6:54469542-54469543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534676215	chr6:54469558-54469559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187988984	chr6:54469562-54469563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577213393	chr6:54469575-54469576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191256613	chr6:54469607-54469608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556819269	chr6:54469659-54469660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372010994	chr6:54469713-54469714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7755519	chr6:54469716-54469717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs55695102	chr6:54469720-54469721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145971344	chr6:54469730-54469731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139845009	chr6:54469732-54469733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71548681	chr6:54469734-54469735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13220401	chr6:54469759-54469760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572456783	chr6:54469761-54469762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541513142	chr6:54469762-54469763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564513901	chr6:54469763-54469764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7775828	chr6:54469771-54469772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13220407	chr6:54469775-54469776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13204153	chr6:54469776-54469777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369051575	chr6:54469791-54469792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs70983437	chr6:54469792-54469793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs70983438	chr6:54469796-54469797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs70983439	chr6:54469799-54469800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13204251	chr6:54469807-54469808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71548682	chr6:54469817-54469818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs70983440	chr6:54469822-54469823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12525174	chr6:54469835-54469836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371731900	chr6:54469841-54469842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375361168	chr6:54469845-54469846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182061712	chr6:54469878-54469879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54465800-54481800	Weak transcription	Aorta	Aorta
2	chr6:54467800-54479200	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links