Variant report

Variant	esv3415604
Chromosome Location	chr1:186551601-186554112
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	CTCF	chr1:186552796-186552852	Fibrobl	skin:	n/a	n/a
2	POLR2A	chr1:186553234-186553344	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000233196	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556801933	chr1:186551602-186551603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558509351	chr1:186551608-186551609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181683686	chr1:186551609-186551610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536167009	chr1:186551649-186551650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34783652	chr1:186551667-186551668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554134443	chr1:186551696-186551697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572439588	chr1:186551698-186551699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573220602	chr1:186551730-186551731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540145799	chr1:186551788-186551789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78001453	chr1:186551815-186551816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557880132	chr1:186551869-186551870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138594247	chr1:186551883-186551884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114297230	chr1:186551884-186551885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561548677	chr1:186551905-186551906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529051093	chr1:186551933-186551934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184123880	chr1:186551981-186551982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546885132	chr1:186551994-186551995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11811259	chr1:186552007-186552008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11811260	chr1:186552022-186552023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569630314	chr1:186552083-186552084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574943874	chr1:186552097-186552098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530622369	chr1:186552171-186552172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549068614	chr1:186552192-186552193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530988921	chr1:186552231-186552232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72721529	chr1:186552272-186552273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564597081	chr1:186552309-186552310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554478889	chr1:186552337-186552338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114146698	chr1:186552350-186552351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539491325	chr1:186552361-186552362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371784929	chr1:186552362-186552363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575982269	chr1:186552384-186552385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77305155	chr1:186552428-186552429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537170051	chr1:186552440-186552441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555545826	chr1:186552468-186552469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573815240	chr1:186552515-186552516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188521027	chr1:186552546-186552547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559639031	chr1:186552562-186552563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578005790	chr1:186552590-186552591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563568553	chr1:186552616-186552617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563292465	chr1:186552626-186552627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113336574	chr1:186552710-186552711	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139113642	chr1:186552711-186552712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575518370	chr1:186552827-186552828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560800171	chr1:186552830-186552831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs529540457	chr1:186552831-186552832	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs546977275	chr1:186552853-186552854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369164528	chr1:186552952-186552953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566226006	chr1:186552965-186552966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546131813	chr1:186552981-186552982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564504250	chr1:186552997-186552998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186547800-186553000	Weak transcription	Gastric	stomach
2	chr1:186548600-186560800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:186552400-186552800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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