Variant report

Variant	nsv976583
Chromosome Location	chr12:20968620-21036807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

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	BATF	chr12:21021928-21022137	GM12878	blood:	n/a	chr12:21022019-21022030
3	BCL3	chr12:20983287-20983862	A549	lung:	n/a	n/a
4	BHLHE40	chr12:21017099-21017177	GM12878	blood:	n/a	n/a
5	BRCA1	chr12:20975364-20975513	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr12:20975368-20976107	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr12:21036282-21036646	Hela-S3	cervix:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
8	CEBPB	chr12:20982312-20982493	IMR90	lung:	n/a	chr12:20982413-20982424
9	CEBPB	chr12:20983601-20983801	Hela-S3	cervix:	n/a	chr12:20983711-20983722
10	CEBPB	chr12:21036268-21036667	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
11	CEBPB	chr12:20991877-20992081	HepG2	liver:	n/a	chr12:20992038-20992049
12	CEBPB	chr12:20982284-20982555	A549	lung:	n/a	chr12:20982413-20982424
13	CEBPB	chr12:20975351-20976142	A549	lung:	n/a	n/a
14	CEBPB	chr12:21036323-21036549	HepG2	liver:	n/a	chr12:21036463-21036474
15	CEBPB	chr12:21036286-21036659	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
16	CEBPB	chr12:21036155-21036832	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
17	CEBPB	chr12:20991943-20992076	A549	lung:	n/a	chr12:20992038-20992049
18	CEBPB	chr12:20983497-20983867	A549	lung:	n/a	chr12:20983711-20983722
19	CEBPB	chr12:20982280-20982503	HepG2	liver:	n/a	chr12:20982413-20982424
20	CEBPB	chr12:20983420-20984015	A549	lung:	n/a	chr12:20983711-20983722
21	CEBPB	chr12:21015510-21015751	A549	lung:	n/a	n/a
22	CEBPB	chr12:20983564-20983877	HepG2	liver:	n/a	chr12:20983711-20983722
23	CEBPB	chr12:20983561-20984147	A549	lung:	n/a	chr12:20983711-20983722
24	CHD2	chr12:20975360-20975559	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr12:21009590-21009613	GM20000	blood:	n/a	n/a
26	CTCF	chr12:20994140-20994290	A549	lung:	n/a	n/a
27	CTCF	chr12:21009487-21009574	LNCaP	prostate:	n/a	n/a
28	CTCF	chr12:21016018-21016303	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr12:21022085-21022282	A549	lung:	n/a	n/a
30	CTCF	chr12:21009530-21009554	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:21022158-21022249	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr12:21022130-21022264	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:21022151-21022264	GM19240	blood:	n/a	n/a
34	CTCF	chr12:21022153-21022245	GM12878	blood:	n/a	n/a
35	CTCF	chr12:21009546-21009596	A549	lung:	n/a	n/a
36	CTCF	chr12:21022138-21022262	Fibrobl	skin:	n/a	n/a
37	CTCF	chr12:21016080-21016230	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr12:21022144-21022253	K562	blood:	n/a	n/a
39	CTCF	chr12:21016100-21016250	Caco-2	colon:	n/a	n/a
40	CTCF	chr12:21022169-21022257	GM12891	blood:	n/a	n/a
41	CTCF	chr12:21022147-21022253	NHEK	skin:	n/a	n/a
42	CTCF	chr12:21016167-21016176	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr12:21022154-21022253	MCF-7	breast:	n/a	n/a
44	CTCF	chr12:21022145-21022262	Gliobla	brain:	n/a	n/a
45	CTCF	chr12:21009320-21009470	A549	lung:	n/a	n/a
46	CTCF	chr12:20989086-20989127	GM10248	blood:	n/a	n/a
47	CTCF	chr12:21022146-21022257	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr12:21022128-21022267	A549	lung:	n/a	n/a
49	CTCF	chr12:21022153-21022253	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:21022178-21022245	GM19238	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21015340-21015390	CMK	blood:	n/a
2	chr12:21015340-21015390	HEK293	kidney:	embryo
3	chr12:21015340-21015390	SKMC	muscle:	n/a
4	chr12:20983111-20983161	T-47D	breast:	n/a
5	chr12:20983111-20983161	HCM	heart:	n/a
6	chr12:21015340-21015390	AG09309	skin:	n/a
7	chr12:21014317-21014367	SKMC	muscle:	n/a
8	chr12:20983111-20983161	K562	blood:	n/a
9	chr12:20983111-20983161	PANC-1	pancreas:	n/a
10	chr12:21015340-21015390	AG10803	skin:	n/a
11	chr12:21015340-21015390	NB4	blood:	n/a
12	chr12:20983111-20983161	HRCEpiC	kidney:	n/a
13	chr12:21015340-21015390	HCF	heart:	n/a
14	chr12:20983111-20983161	NT2-D1	testis:	n/a
15	chr12:21015340-21015390	GM12878	blood:	n/a
16	chr12:21014317-21014367	GM12892	blood:	n/a
17	chr12:20983111-20983161	HNPCEpiC	eye:	n/a
18	chr12:21014317-21014367	AG04449	skin:	fetal
19	chr12:20983111-20983161	AG09319	gingival:	n/a
20	chr12:21014317-21014367	Hepatocyte	liver:	n/a
21	chr12:21015340-21015390	HRPEpiC	eye:	n/a
22	chr12:20983111-20983161	GM12891	blood:	n/a
23	chr12:20983111-20983161	Hela-S3	cervix:	n/a
24	chr12:20983111-20983161	SK-N-MC	brain:	n/a
25	chr12:21014317-21014367	BE2_C	brain:	n/a
26	chr12:21015340-21015390	MCF-7	breast:	n/a
27	chr12:21014317-21014367	LNCaP	prostate:	n/a
28	chr12:21014317-21014367	AG09309	skin:	n/a
29	chr12:20983111-20983161	HEK293	kidney:	embryo
30	chr12:21014317-21014367	AG09319	gingival:	n/a
31	chr12:20983111-20983161	SKMC	muscle:	n/a
32	chr12:21014317-21014367	SAEC	small airway:	n/a
33	chr12:20983111-20983161	AG10803	skin:	n/a
34	chr12:21014317-21014367	HMEC	breast:	n/a
35	chr12:21014317-21014367	NHBE	bronchial:	n/a
36	chr12:21015340-21015390	HCPEpiC	choroid plexus:	n/a
37	chr12:20983111-20983161	LNCaP	prostate:	n/a
38	chr12:21015340-21015390	NHDF-neo	bronchial:	n/a
39	chr12:21014317-21014367	RPTEC	kidney:	n/a
40	chr12:21015340-21015390	H1-hESC	embryonic stem cell:	embryo
41	chr12:20983111-20983161	BJ	skin:	n/a
42	chr12:21014317-21014367	HRE	kidney:	n/a
43	chr12:20983111-20983161	MCF-7	breast:	n/a
44	chr12:21015340-21015390	HIPEpiC	eye:	n/a
45	chr12:20983111-20983161	Caco-2	colon:	n/a
46	chr12:21015340-21015390	SK-N-SH	brain:	n/a
47	chr12:21014317-21014367	HepG2	liver:	n/a
48	chr12:21014317-21014367	GM12891	blood:	n/a
49	chr12:21014317-21014367	MCF10A-Er-Src	breast:	n/a
50	chr12:21014317-21014367	HIPEpiC	eye:	n/a

No data

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

Extended variants
information (count: 3454 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:3454 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200104106	chr12:20968641-20968642	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs376671816	chr12:20968644-20968645	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs527574443	chr12:20968645-20968646	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs4149158	chr12:20968666-20968667	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs201503539	chr12:20968668-20968669	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs201943559	chr12:20968669-20968670	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs61612406	chr12:20968683-20968684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200793002	chr12:20968698-20968699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376673811	chr12:20968723-20968724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369736559	chr12:20968739-20968740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149944473	chr12:20968741-20968742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377570761	chr12:20968752-20968753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563634489	chr12:20968755-20968756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529471627	chr12:20968759-20968760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549294341	chr12:20968766-20968767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566179004	chr12:20968772-20968773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370551723	chr12:20968778-20968779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528530013	chr12:20968782-20968783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370172063	chr12:20968794-20968795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374604069	chr12:20968800-20968801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571633334	chr12:20968804-20968805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533097921	chr12:20968807-20968808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537425469	chr12:20968808-20968809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556524453	chr12:20968809-20968810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10734710	chr12:20968828-20968829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs193031273	chr12:20968832-20968833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555227672	chr12:20968867-20968868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569599313	chr12:20968875-20968876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371677382	chr12:20968876-20968877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74464403	chr12:20968880-20968881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577248265	chr12:20968935-20968936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369901421	chr12:20968947-20968948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs67516591	chr12:20968982-20968983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563680912	chr12:20968990-20968991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573955359	chr12:20969001-20969002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75589443	chr12:20969071-20969072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559662228	chr12:20969102-20969103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547464767	chr12:20969132-20969133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528601744	chr12:20969149-20969150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551617211	chr12:20969196-20969197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374777043	chr12:20969228-20969229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369664536	chr12:20969252-20969253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565355207	chr12:20969254-20969255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373226117	chr12:20969315-20969316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1850011	chr12:20969323-20969324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142309919	chr12:20969360-20969361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569973037	chr12:20969383-20969384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183752439	chr12:20969390-20969391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369359476	chr12:20969408-20969409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565773614	chr12:20969433-20969434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20964600-20969600	Weak transcription	A549	lung
2	chr12:20967400-20975400	Weak transcription	Liver	Liver
3	chr12:20969600-20970400	Strong transcription	A549	lung
4	chr12:20970400-20975200	Weak transcription	A549	lung
5	chr12:20974200-20975400	Active TSS	Hela-S3	cervix
6	chr12:20975200-20977200	Active TSS	A549	lung
7	chr12:20975400-20976000	Enhancers	Liver	Liver
8	chr12:20975400-20976200	Flanking Active TSS	Hela-S3	cervix
9	chr12:20976000-20981400	Weak transcription	Liver	Liver
10	chr12:20976200-20976600	Enhancers	Hela-S3	cervix
11	chr12:20976600-20976800	Flanking Active TSS	Hela-S3	cervix
12	chr12:20976800-20977000	Active TSS	Hela-S3	cervix
13	chr12:20977200-20977600	Flanking Active TSS	A549	lung
14	chr12:20977600-20979000	Active TSS	A549	lung
15	chr12:20979000-20980200	Flanking Active TSS	A549	lung
16	chr12:20980200-20984000	Enhancers	A549	lung
17	chr12:20981400-20983600	Enhancers	Liver	Liver
18	chr12:20983200-20983400	Enhancers	Hela-S3	cervix
19	chr12:20983400-20996400	Weak transcription	Hela-S3	cervix
20	chr12:20983600-20995600	Weak transcription	Liver	Liver
21	chr12:20984000-20985400	Weak transcription	A549	lung
22	chr12:20985400-20985600	Enhancers	A549	lung
23	chr12:20985400-20986000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:20985600-20986000	Flanking Active TSS	A549	lung
25	chr12:20985600-20986200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:20985800-20986200	Enhancers	Brain Substantia Nigra	brain
27	chr12:20986000-20986200	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:20986000-20986200	Enhancers	A549	lung
29	chr12:20986000-20987800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:20986200-20990800	Weak transcription	A549	lung
31	chr12:20987600-20987800	Enhancers	Pancreas	Pancrea
32	chr12:20987800-20988200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:20995600-20996000	ZNF genes & repeats	Liver	Liver
34	chr12:20995600-20996000	ZNF genes & repeats	A549	lung
35	chr12:20996000-20997400	Weak transcription	A549	lung
36	chr12:20996000-21004800	Weak transcription	Liver	Liver
37	chr12:20997400-20997600	ZNF genes & repeats	A549	lung
38	chr12:20997600-20999200	Weak transcription	A549	lung
39	chr12:20999200-20999600	ZNF genes & repeats	A549	lung
40	chr12:21004800-21005000	ZNF genes & repeats	Liver	Liver
41	chr12:21006200-21011000	Weak transcription	Liver	Liver
42	chr12:21006600-21018000	Weak transcription	A549	lung
43	chr12:21007200-21007800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:21007400-21007800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:21007400-21007800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:21007400-21008200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:21007600-21008000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:21011000-21014600	Strong transcription	Liver	Liver
49	chr12:21014600-21015400	Weak transcription	Liver	Liver
50	chr12:21015400-21018400	Strong transcription	Liver	Liver

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