Variant report

Variant	nsv973140
Chromosome Location	chr12:34294758-34301152
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	BRCA1	chr12:34295564-34295571	GM12878	blood:	n/a	n/a
2	CTCF	chr12:34300560-34300710	GM12873	blood:	n/a	n/a
3	CTCF	chr12:34297847-34297875	GM10266	blood:	n/a	n/a
4	CTCF	chr12:34300540-34300690	AoAF	blood vessel:	n/a	n/a
5	FOS	chr12:34300466-34300712	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA3	chr12:34295676-34295942	MCF-7	breast:	n/a	n/a
7	IRF1	chr12:34300513-34300519	K562	blood:	n/a	n/a
8	MYC	chr12:34297328-34297491	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:34295752-34295792	A549	lung:	n/a	n/a
10	POLR2A	chr12:34295633-34295732	Gliobla	brain:	n/a	n/a
11	POLR2A	chr12:34300425-34300623	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr12:34295804-34295810	A549	lung:	n/a	n/a
13	POLR2A	chr12:34300192-34300392	GM12878	blood:	n/a	n/a
14	RFX5	chr12:34300511-34300733	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr12:34300468-34300580	HepG2	liver:	n/a	n/a
16	SPI1	chr12:34299913-34300207	HL-60	blood:	n/a	n/a
17	SPI1	chr12:34299983-34300227	K562	blood:	n/a	n/a
18	USF2	chr12:34300561-34300704	K562	blood:	n/a	n/a
19	ZNF384	chr12:34300048-34300134	K562	blood:	n/a	n/a
20	ZNF384	chr12:34300079-34300274	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255628	TF binding region

Extended variants
information (count: 115 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145819720	chr12:34295415-34295416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs200493781	chr12:34295454-34295455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs114205047	chr12:34295485-34295486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs114681370	chr12:34295486-34295487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190085256	chr12:34295493-34295494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs11830140	chr12:34295504-34295505	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565225576	chr12:34295530-34295531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11832550	chr12:34295545-34295546	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75070268	chr12:34295568-34295569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561292237	chr12:34295570-34295571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs11830127	chr12:34295582-34295583	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs75816962	chr12:34295590-34295591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78415502	chr12:34295591-34295592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs75490608	chr12:34295602-34295603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78121251	chr12:34295613-34295614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78967285	chr12:34295619-34295620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76416220	chr12:34295627-34295628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs116501229	chr12:34295630-34295631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75771897	chr12:34295633-34295634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539019047	chr12:34295643-34295644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377226542	chr12:34295664-34295665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551728462	chr12:34295673-34295674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs77174111	chr12:34295681-34295682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78596836	chr12:34295684-34295685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs78977777	chr12:34295685-34295686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79975867	chr12:34295688-34295689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs75988905	chr12:34295692-34295693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76481727	chr12:34295700-34295701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs80158396	chr12:34295704-34295705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77757848	chr12:34295714-34295715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs77267691	chr12:34295715-34295716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs80342708	chr12:34295719-34295720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75050601	chr12:34295726-34295727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567303497	chr12:34295737-34295738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs74684160	chr12:34295740-34295741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs376673186	chr12:34295745-34295746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs73313375	chr12:34295762-34295763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536394361	chr12:34295772-34295773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs555976347	chr12:34295773-34295774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182528150	chr12:34295795-34295796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544585843	chr12:34295804-34295805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs145537223	chr12:34295833-34295834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187233132	chr12:34295850-34295851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200362749	chr12:34295907-34295908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs541277853	chr12:34295916-34295917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115359310	chr12:34295937-34295938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs371283568	chr12:34295952-34295953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs116100474	chr12:34295954-34295955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561573657	chr12:34295961-34295962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs530219631	chr12:34295962-34295963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34295400-34296000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links