Variant report

Variant	nsv898860
Chromosome Location	chr12:20964557-21015760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:140)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:140 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:20983563-20983814	HepG2	liver:	n/a	n/a
2	BCL3	chr12:20983287-20983862	A549	lung:	n/a	n/a
3	BRCA1	chr12:20975364-20975513	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:20975368-20976107	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr12:20991877-20992081	HepG2	liver:	n/a	chr12:20992038-20992049
6	CEBPB	chr12:20983601-20983801	Hela-S3	cervix:	n/a	chr12:20983711-20983722
7	CEBPB	chr12:20982284-20982555	A549	lung:	n/a	chr12:20982413-20982424
8	CEBPB	chr12:20983564-20983877	HepG2	liver:	n/a	chr12:20983711-20983722
9	CEBPB	chr12:20983420-20984015	A549	lung:	n/a	chr12:20983711-20983722
10	CEBPB	chr12:20991943-20992076	A549	lung:	n/a	chr12:20992038-20992049
11	CEBPB	chr12:21015510-21015751	A549	lung:	n/a	n/a
12	CEBPB	chr12:20983561-20984147	A549	lung:	n/a	chr12:20983711-20983722
13	CEBPB	chr12:20982312-20982493	IMR90	lung:	n/a	chr12:20982413-20982424
14	CEBPB	chr12:20982280-20982503	HepG2	liver:	n/a	chr12:20982413-20982424
15	CEBPB	chr12:20975351-20976142	A549	lung:	n/a	n/a
16	CEBPB	chr12:20983497-20983867	A549	lung:	n/a	chr12:20983711-20983722
17	CHD2	chr12:20975360-20975559	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr12:20988781-20988802	GM13976	blood:	n/a	n/a
19	CTCF	chr12:21009546-21009596	A549	lung:	n/a	n/a
20	CTCF	chr12:21009478-21009610	LNCaP	prostate:	n/a	n/a
21	CTCF	chr12:20988752-20988806	GM10266	blood:	n/a	n/a
22	CTCF	chr12:21009487-21009574	LNCaP	prostate:	n/a	n/a
23	CTCF	chr12:20989086-20989127	GM10248	blood:	n/a	n/a
24	CTCF	chr12:21009590-21009613	GM20000	blood:	n/a	n/a
25	CTCF	chr12:20994140-20994290	A549	lung:	n/a	n/a
26	CTCF	chr12:21009320-21009470	A549	lung:	n/a	n/a
27	CTCF	chr12:21009530-21009554	MCF-7	breast:	n/a	n/a
28	CUX1	chr12:21006808-21006809	GM12878	blood:	n/a	n/a
29	EP300	chr12:20983306-20983882	A549	lung:	n/a	chr12:20983708-20983722
30	EP300	chr12:20983727-20983739	HepG2	liver:	n/a	n/a
31	EP300	chr12:21007924-21007986	K562	blood:	n/a	chr12:21007935-21007949
32	EP300	chr12:20983276-20983971	A549	lung:	n/a	chr12:20983708-20983722
33	EP300	chr12:20975163-20975798	A549	lung:	n/a	n/a
34	FOS	chr12:20983428-20983851	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr12:20983379-20983851	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr12:20983378-20983856	MCF10A-Er-Src	breast:	n/a	n/a
37	FOSL2	chr12:20983249-20983934	A549	lung:	n/a	n/a
38	FOSL2	chr12:20983462-20983723	A549	lung:	n/a	n/a
39	FOSL2	chr12:20975164-20975644	A549	lung:	n/a	n/a
40	FOXA1	chr12:20983273-20983876	HepG2	liver:	n/a	chr12:20983675-20983687
41	FOXA1	chr12:20983234-20983835	A549	lung:	n/a	chr12:20983675-20983687
42	FOXA1	chr12:20983218-20983898	A549	lung:	n/a	chr12:20983675-20983687
43	FOXA2	chr12:20983253-20983737	HepG2	liver:	n/a	chr12:20983675-20983687
44	FOXA2	chr12:20975255-20975663	A549	lung:	n/a	n/a
45	FOXA2	chr12:20983253-20983875	A549	lung:	n/a	chr12:20983675-20983687
46	FOXA2	chr12:20970751-20971143	A549	lung:	n/a	n/a
47	FOXA2	chr12:20975228-20975697	A549	lung:	n/a	n/a
48	GABPA	chr12:20975353-20975599	Hela-S3	cervix:	n/a	n/a
49	GATA3	chr12:20983403-20983913	A549	lung:	n/a	n/a
50	JUN	chr12:20991966-20992133	HepG2	liver:	n/a	chr12:20992039-20992052

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21014317-21014367	SKMC	muscle:	n/a
2	chr12:21015340-21015390	PFSK-1	brain:	n/a
3	chr12:21015340-21015390	SK-N-MC	brain:	n/a
4	chr12:20966439-20966489	NB4	blood:	n/a
5	chr12:21014317-21014367	BE2_C	brain:	n/a
6	chr12:21015340-21015390	IMR90	lung:	fetal
7	chr12:21014317-21014367	PrEC	prostate:	n/a
8	chr12:20983111-20983161	GM19239	blood:	n/a
9	chr12:20966524-20966574	PANC-1	pancreas:	n/a
10	chr12:20966439-20966489	GM06990	blood:	n/a
11	chr12:20983111-20983161	HRCEpiC	kidney:	n/a
12	chr12:20966439-20966489	NHBE	bronchial:	n/a
13	chr12:21014317-21014367	NT2-D1	testis:	n/a
14	chr12:20966524-20966574	NHDF-neo	bronchial:	n/a
15	chr12:20966524-20966574	HepG2	liver:	n/a
16	chr12:20966524-20966574	AG04449	skin:	fetal
17	chr12:20966439-20966489	HCF	heart:	n/a
18	chr12:20983111-20983161	NHBE	bronchial:	n/a
19	chr12:20966524-20966574	HCT-116	colon:	n/a
20	chr12:20983111-20983161	PFSK-1	brain:	n/a
21	chr12:21015340-21015390	GM19239	blood:	n/a
22	chr12:21015340-21015390	HRPEpiC	eye:	n/a
23	chr12:20966439-20966489	HCPEpiC	choroid plexus:	n/a
24	chr12:20966439-20966489	HCM	heart:	n/a
25	chr12:21014317-21014367	MCF10A-Er-Src	breast:	n/a
26	chr12:20966439-20966489	MCF10A-Er-Src	breast:	n/a
27	chr12:20966439-20966489	AoSMC	blood vessel:	n/a
28	chr12:20966439-20966489	PANC-1	pancreas:	n/a
29	chr12:20966524-20966574	HRPEpiC	eye:	n/a
30	chr12:20966439-20966489	CMK	blood:	n/a
31	chr12:21015340-21015390	Hepatocyte	liver:	n/a
32	chr12:20966439-20966489	SK-N-SH_RA	brain:	n/a
33	chr12:20966524-20966574	CMK	blood:	n/a
34	chr12:20966524-20966574	Hepatocyte	liver:	n/a
35	chr12:20966439-20966489	HRCEpiC	kidney:	n/a
36	chr12:20966524-20966574	A549	lung:	n/a
37	chr12:20966524-20966574	HIPEpiC	eye:	n/a
38	chr12:20983111-20983161	HAEpiC	amniotic membrane:	n/a
39	chr12:20966524-20966574	HRCEpiC	kidney:	n/a
40	chr12:20966524-20966574	NH-A	brain:	n/a
41	chr12:21015340-21015390	HepG2	liver:	n/a
42	chr12:20966524-20966574	HRE	kidney:	n/a
43	chr12:20966524-20966574	GM19239	blood:	n/a
44	chr12:21015340-21015390	NT2-D1	testis:	n/a
45	chr12:20966439-20966489	H1-hESC	embryonic stem cell:	embryo
46	chr12:20966439-20966489	AG04449	skin:	fetal
47	chr12:20966439-20966489	ProgFib	skin:	n/a
48	chr12:20966439-20966489	Hepatocyte	liver:	n/a
49	chr12:20983111-20983161	ovcar-3	ovarian:	n/a
50	chr12:21015340-21015390	AG09309	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000256157	TF binding region
SLCO1B7	TF binding region
SLCO1B3	TF binding region
ENSG00000257046	TF binding region
ENSG00000256157	CpG island
SLCO1B7	CpG island
SLCO1B3	CpG island
ENSG00000257046	CpG island

Extended variants
information (count: 2687 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2687 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12228798	chr12:20964557-20964558	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562186908	chr12:20964616-20964617	Enhancers Flanking Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
3	rs571748212	chr12:20964618-20964619	Enhancers Flanking Active TSS Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs144000420	chr12:20964656-20964657	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551019242	chr12:20964704-20964705	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7962265	chr12:20964719-20964720	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs535761310	chr12:20964738-20964739	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555742807	chr12:20964773-20964774	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114610398	chr12:20964778-20964779	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534851366	chr12:20964839-20964840	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372749280	chr12:20964840-20964841	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71039996	chr12:20964858-20964859	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557631336	chr12:20964872-20964873	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577688641	chr12:20964898-20964899	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568014637	chr12:20964931-20964932	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144358003	chr12:20964943-20964944	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187121827	chr12:20964950-20964951	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573341935	chr12:20964964-20964965	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34150947	chr12:20965020-20965021	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34563539	chr12:20965040-20965041	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528766098	chr12:20965060-20965061	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545599933	chr12:20965061-20965062	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148796943	chr12:20965092-20965093	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142473159	chr12:20965093-20965094	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551058026	chr12:20965103-20965104	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561360754	chr12:20965106-20965107	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556489864	chr12:20965111-20965112	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192060213	chr12:20965134-20965135	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565978535	chr12:20965137-20965138	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150715548	chr12:20965140-20965141	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183429555	chr12:20965144-20965145	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188284137	chr12:20965150-20965151	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10770741	chr12:20965265-20965266	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189954159	chr12:20965283-20965284	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182258401	chr12:20965308-20965309	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556684363	chr12:20965313-20965314	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138932594	chr12:20965321-20965322	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370631252	chr12:20965331-20965332	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71436838	chr12:20965377-20965378	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186565541	chr12:20965386-20965387	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552661700	chr12:20965394-20965395	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191195627	chr12:20965395-20965396	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545332164	chr12:20965409-20965410	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370840229	chr12:20965415-20965416	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11045522	chr12:20965444-20965445	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544819790	chr12:20965462-20965463	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139048747	chr12:20965469-20965470	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11045523	chr12:20965479-20965480	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547036589	chr12:20965486-20965487	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560240353	chr12:20965489-20965490	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20962000-20965000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:20963200-20964600	Active TSS	Liver	Liver
3	chr12:20964000-20964800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:20964200-20964600	Flanking Active TSS	A549	lung
5	chr12:20964400-20964600	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:20964600-20965000	Flanking Active TSS	Liver	Liver
7	chr12:20964600-20969600	Weak transcription	A549	lung
8	chr12:20965000-20965400	Active TSS	Liver	Liver
9	chr12:20965400-20966000	Flanking Active TSS	Liver	Liver
10	chr12:20966000-20966400	Active TSS	Liver	Liver
11	chr12:20966400-20966800	Flanking Active TSS	Liver	Liver
12	chr12:20966800-20967400	Active TSS	Liver	Liver
13	chr12:20967400-20975400	Weak transcription	Liver	Liver
14	chr12:20969600-20970400	Strong transcription	A549	lung
15	chr12:20970400-20975200	Weak transcription	A549	lung
16	chr12:20974200-20975400	Active TSS	Hela-S3	cervix
17	chr12:20975200-20977200	Active TSS	A549	lung
18	chr12:20975400-20976000	Enhancers	Liver	Liver
19	chr12:20975400-20976200	Flanking Active TSS	Hela-S3	cervix
20	chr12:20976000-20981400	Weak transcription	Liver	Liver
21	chr12:20976200-20976600	Enhancers	Hela-S3	cervix
22	chr12:20976600-20976800	Flanking Active TSS	Hela-S3	cervix
23	chr12:20976800-20977000	Active TSS	Hela-S3	cervix
24	chr12:20977200-20977600	Flanking Active TSS	A549	lung
25	chr12:20977600-20979000	Active TSS	A549	lung
26	chr12:20979000-20980200	Flanking Active TSS	A549	lung
27	chr12:20980200-20984000	Enhancers	A549	lung
28	chr12:20981400-20983600	Enhancers	Liver	Liver
29	chr12:20983200-20983400	Enhancers	Hela-S3	cervix
30	chr12:20983400-20996400	Weak transcription	Hela-S3	cervix
31	chr12:20983600-20995600	Weak transcription	Liver	Liver
32	chr12:20984000-20985400	Weak transcription	A549	lung
33	chr12:20985400-20985600	Enhancers	A549	lung
34	chr12:20985400-20986000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:20985600-20986000	Flanking Active TSS	A549	lung
36	chr12:20985600-20986200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:20985800-20986200	Enhancers	Brain Substantia Nigra	brain
38	chr12:20986000-20986200	Enhancers	Brain Cingulate Gyrus	brain
39	chr12:20986000-20986200	Enhancers	A549	lung
40	chr12:20986000-20987800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:20986200-20990800	Weak transcription	A549	lung
42	chr12:20987600-20987800	Enhancers	Pancreas	Pancrea
43	chr12:20987800-20988200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:20995600-20996000	ZNF genes & repeats	Liver	Liver
45	chr12:20995600-20996000	ZNF genes & repeats	A549	lung
46	chr12:20996000-20997400	Weak transcription	A549	lung
47	chr12:20996000-21004800	Weak transcription	Liver	Liver
48	chr12:20997400-20997600	ZNF genes & repeats	A549	lung
49	chr12:20997600-20999200	Weak transcription	A549	lung
50	chr12:20999200-20999600	ZNF genes & repeats	A549	lung

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