Variant report

Variant	nsv976532
Chromosome Location	chr12:11351537-11368813
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	ARID3A	chr12:11352505-11352870	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:11355771-11356082	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:11352587-11352801	HepG2	liver:	n/a	n/a
4	CEBPB	chr12:11355767-11356048	IMR90	lung:	n/a	n/a
5	CTCF	chr12:11352640-11352790	SAEC	small airway:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
6	CTCF	chr12:11352620-11352770	AoAF	blood vessel:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
7	CTCF	chr12:11362120-11362270	Caco-2	colon:	n/a	n/a
8	CTCF	chr12:11352620-11352770	HepG2	liver:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
9	CTCF	chr12:11352533-11352847	SK-N-SH_RA	brain:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
10	CTCF	chr12:11352660-11352810	SK-N-SH_RA	brain:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
11	CTCF	chr12:11352600-11352750	HepG2	liver:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
12	CTCF	chr12:11352640-11352790	HEEpiC	esophagus:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
13	CTCF	chr12:11362089-11362261	K562	blood:	n/a	n/a
14	CTCF	chr12:11362084-11362298	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:11352580-11352730	GM12872	blood:	n/a	n/a
16	CTCF	chr12:11352640-11352790	HCPEpiC	choroid plexus:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
17	CTCF	chr12:11362120-11362270	MCF-7	breast:	n/a	n/a
18	CTCF	chr12:11352660-11352810	AG10803	skin:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
19	CTCF	chr12:11352660-11352810	HFF-Myc	foreskin:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
20	CTCF	chr12:11352640-11352790	HMF	breast:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
21	CTCF	chr12:11362155-11362246	GM19238	blood:	n/a	n/a
22	CTCF	chr12:11362180-11362330	BE2_C	brain:	n/a	n/a
23	CTCF	chr12:11352940-11353090	HMEC	breast:	n/a	n/a
24	CTCF	chr12:11352740-11352890	AG04450	lung:	n/a	n/a
25	CTCF	chr12:11362140-11362290	HCT-116	colon:	n/a	n/a
26	CTCF	chr12:11352653-11352764	MCF-7	breast:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
27	CTCF	chr12:11352640-11352790	SK-N-SH_RA	brain:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
28	CTCF	chr12:11352620-11352770	GM12864	blood:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
29	CTCF	chr12:11362138-11362246	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:11362148-11362231	A549	lung:	n/a	n/a
31	CTCF	chr12:11352660-11352810	MCF-7	breast:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
32	CTCF	chr12:11362185-11362202	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr12:11352609-11352737	A549	lung:	n/a	n/a
34	CTCF	chr12:11352626-11352843	K562	blood:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
35	CTCF	chr12:11352660-11352810	HRE	kidney:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
36	CTCF	chr12:11352620-11352770	HCT-116	colon:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
37	CTCF	chr12:11352700-11352850	AG09319	gingival:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
38	CTCF	chr12:11352531-11352913	A549	lung:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
39	CTCF	chr12:11352620-11352770	BE2_C	brain:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
40	CTCF	chr12:11352502-11352956	IMR90	lung:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
41	CTCF	chr12:11352640-11352790	GM12872	blood:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
42	CTCF	chr12:11352587-11352859	HUVEC	blood vessel:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
43	CTCF	chr12:11352680-11352830	GM06990	blood:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
44	CTCF	chr12:11352620-11352770	BJ	skin:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
45	CTCF	chr12:11352477-11352833	MCF-7	breast:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
46	CTCF	chr12:11352456-11353075	A549	lung:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
47	CTCF	chr12:11352498-11352936	MCF-7	breast:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
48	CTCF	chr12:11362080-11362230	BE2_C	brain:	n/a	n/a
49	CTCF	chr12:11352666-11352806	GM10266	blood:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741
50	CTCF	chr12:11352640-11352790	AG10803	skin:	n/a	chr12:11352719-11352740 chr12:11352724-11352742 chr12:11352725-11352741

No.	Distal block	Cell Line	Cell type
1	chr12:11352192..11353981-chr12:11359550..11361996,2	MCF-7	breast:
2	chr12:10923706..10924220-chr12:11352723..11353239,2	K562	blood:
3	chr12:10923485..10924800-chr12:11352236..11353220,4	MCF-7	breast:
4	chr12:11352192..11353981-chr12:11359550..11361996,2	MCF-7	breast:
5	chr12:11019655..11020615-chr12:11352279..11353067,3	MCF-7	breast:
6	chr12:11355200..11357973-chr12:11364676..11367574,2	K562	blood:
7	chr12:10923804..10924411-chr12:11352563..11353080,2	MCF-7	breast:
8	chr12:11329898..11330417-chr12:11355501..11356398,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRH2-2	chr12:11365126-11365560	ENSG00000256373

Variant related genes	Relation type
ENSG00000256373	TF binding region
ENSG00000256657	TF binding region
ENSG00000256373	chromatin interactions
FBXW7	miRNA target sites

Extended variants
information (count: 646 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73050811	chr12:11351555-11351556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543201343	chr12:11351557-11351558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369576772	chr12:11351558-11351559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4763241	chr12:11351568-11351569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531816103	chr12:11351594-11351595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4763242	chr12:11351663-11351664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542457600	chr12:11351686-11351687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563507563	chr12:11351717-11351718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188831463	chr12:11351722-11351723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529190713	chr12:11351741-11351742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202239687	chr12:11351749-11351750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114544657	chr12:11351767-11351768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35622190	chr12:11351869-11351870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528033253	chr12:11351893-11351894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117548742	chr12:11351906-11351907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556310811	chr12:11351932-11351933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1650038	chr12:11351954-11351955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs142730178	chr12:11351965-11351966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537185062	chr12:11351969-11351970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575550339	chr12:11351979-11351980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76444378	chr12:11352017-11352018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550753343	chr12:11352019-11352020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538761357	chr12:11352026-11352027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558652636	chr12:11352029-11352030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188887636	chr12:11352070-11352071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74062465	chr12:11352168-11352169	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147379618	chr12:11352200-11352201	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs140055443	chr12:11352204-11352205	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs574265664	chr12:11352342-11352343	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs145536474	chr12:11352343-11352344	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536452466	chr12:11352361-11352362	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs1615001	chr12:11352362-11352363	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs76920764	chr12:11352371-11352372	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs139984305	chr12:11352390-11352391	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs564995365	chr12:11352405-11352406	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs527680963	chr12:11352429-11352430	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs547379237	chr12:11352455-11352456	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs35397792	chr12:11352462-11352463	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371196945	chr12:11352469-11352470	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs149861894	chr12:11352513-11352514	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs560672193	chr12:11352517-11352518	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs374555765	chr12:11352581-11352582	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs115514427	chr12:11352595-11352596	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs553213049	chr12:11352628-11352629	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs549778900	chr12:11352658-11352659	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs145684590	chr12:11352688-11352689	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs538797937	chr12:11352698-11352699	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs573499312	chr12:11352719-11352720	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs538632037	chr12:11352794-11352795	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs74603315	chr12:11352803-11352804	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11326400-11355600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:11330600-11365400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:11351600-11352600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:11352000-11352600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:11352000-11352600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:11352000-11352600	Enhancers	Fetal Brain Male	brain
7	chr12:11352200-11352600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:11352200-11352600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:11352200-11352600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:11352200-11352600	Enhancers	Brain Germinal Matrix	brain
11	chr12:11352200-11352600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:11352400-11352800	Enhancers	Brain Cingulate Gyrus	brain
13	chr12:11352400-11352800	Enhancers	Brain Hippocampus Middle	brain
14	chr12:11352600-11353600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:11353600-11354000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:11353800-11354200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:11355000-11356800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:11355200-11356000	Enhancers	Osteobl	bone
19	chr12:11355600-11356400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:11358000-11362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:11358400-11358600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:11358400-11358800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:11358800-11359800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:11359800-11360800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:11360200-11360800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:11360800-11361200	Enhancers	Brain Germinal Matrix	brain
27	chr12:11360800-11362000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:11361200-11362200	Weak transcription	Brain Germinal Matrix	brain
29	chr12:11361800-11362400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:11362000-11362200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:11362000-11362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:11362000-11362400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:11362000-11362400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:11362000-11362400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:11362200-11362400	Active TSS	Liver	Liver
36	chr12:11362200-11362400	Enhancers	Brain Germinal Matrix	brain
37	chr12:11362200-11371800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:11362400-11366000	Weak transcription	Liver	Liver

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