Variant report

Variant	nsv976597
Chromosome Location	chr12:33604962-33608557
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	CEBPB	chr12:33608367-33608484	HepG2	liver:	n/a	n/a
2	CTCF	chr12:33608160-33608310	GM12865	blood:	n/a	n/a
3	KAP1	chr12:33605758-33605952	K562	blood:	n/a	n/a
4	MAFK	chr12:33607518-33607608	K562	blood:	n/a	n/a
5	NFYB	chr12:33604909-33605069	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:58407921..58410026-chr12:33604212..33606934,2	MCF-7	breast:
2	chr12:33591224..33595287-chr12:33601141..33606110,5	K562	blood:

Variant related genes	Relation type
ENSG00000256070	TF binding region
ENSG00000110975	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201862871	chr12:33604968-33604969	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs34167988	chr12:33605090-33605091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531543245	chr12:33605122-33605123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189270582	chr12:33605138-33605139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537175675	chr12:33605168-33605169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557069390	chr12:33605184-33605185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571097847	chr12:33605288-33605289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540048767	chr12:33605297-33605298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553486292	chr12:33605313-33605314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573480087	chr12:33605326-33605327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10844613	chr12:33605362-33605363	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201051435	chr12:33605402-33605403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555515144	chr12:33605448-33605449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs80242386	chr12:33605481-33605482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567851757	chr12:33605488-33605489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544348422	chr12:33605494-33605495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564229655	chr12:33605516-33605517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543758267	chr12:33605547-33605548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533211592	chr12:33605556-33605557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545594427	chr12:33605566-33605567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78755835	chr12:33605567-33605568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528391242	chr12:33605573-33605574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548449085	chr12:33605669-33605670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561555984	chr12:33605685-33605686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10844614	chr12:33605702-33605703	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371434952	chr12:33605703-33605704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550555792	chr12:33605706-33605707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77406534	chr12:33605732-33605733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181946254	chr12:33605826-33605827	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs532811652	chr12:33605843-33605844	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs76234705	chr12:33605951-33605952	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs567041747	chr12:33605969-33605970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs367652404	chr12:33606011-33606012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547600543	chr12:33606048-33606049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185066965	chr12:33606056-33606057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188270837	chr12:33606097-33606098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372429127	chr12:33606133-33606134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537856535	chr12:33606135-33606136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529314675	chr12:33606174-33606175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181003112	chr12:33606191-33606192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577734878	chr12:33606224-33606225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111847099	chr12:33606257-33606258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74072812	chr12:33606267-33606268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572970081	chr12:33606287-33606288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115891280	chr12:33606294-33606295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565919876	chr12:33606308-33606309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539536664	chr12:33606424-33606425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561974010	chr12:33606435-33606436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186289311	chr12:33606455-33606456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191480030	chr12:33606485-33606486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33595400-33615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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