Variant report

Variant	nsv898792
Chromosome Location	chr12:11478681-11543002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:11501400-11501725	K562	blood:	n/a	n/a
2	BCL3	chr12:11501365-11501771	GM12878	blood:	n/a	n/a
3	BCL3	chr12:11501361-11501642	GM12878	blood:	n/a	n/a
4	CEBPB	chr12:11538442-11538474	A549	lung:	n/a	n/a
5	CEBPB	chr12:11514261-11514433	Hela-S3	cervix:	n/a	chr12:11514316-11514325
6	CEBPB	chr12:11538413-11538520	HepG2	liver:	n/a	chr12:11538466-11538477 chr12:11538464-11538475
7	CEBPB	chr12:11478711-11479007	HepG2	liver:	n/a	chr12:11478828-11478841 chr12:11478830-11478839 chr12:11478828-11478839 chr12:11478829-11478840
8	CREB1	chr12:11501156-11501972	K562	blood:	n/a	n/a
9	CREB1	chr12:11501439-11501709	A549	lung:	n/a	n/a
10	CREB1	chr12:11501341-11501827	HepG2	liver:	n/a	n/a
11	CREB1	chr12:11501322-11501785	K562	blood:	n/a	n/a
12	CREB1	chr12:11501275-11501755	HepG2	liver:	n/a	n/a
13	CTCF	chr12:11500800-11500950	GM12865	blood:	n/a	n/a
14	CTCF	chr12:11500873-11500995	K562	blood:	n/a	n/a
15	CTCF	chr12:11505978-11506004	Lung_OC	lung:	n/a	n/a
16	CTCF	chr12:11500860-11501010	GM06990	blood:	n/a	n/a
17	CTCF	chr12:11500800-11500950	GM12871	blood:	n/a	n/a
18	CTCF	chr12:11531414-11531456	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr12:11500880-11501030	HMEC	breast:	n/a	n/a
20	CTCF	chr12:11500820-11500970	AG04449	skin:	n/a	n/a
21	CTCF	chr12:11500780-11500930	MCF-7	breast:	n/a	n/a
22	CTCF	chr12:11500766-11501020	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:11500780-11500930	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr12:11501527-11501602	GM19239	blood:	n/a	n/a
25	CTCF	chr12:11500860-11501010	GM12866	blood:	n/a	n/a
26	CTCF	chr12:11500860-11501010	GM12864	blood:	n/a	n/a
27	CTCF	chr12:11500880-11501030	GM06990	blood:	n/a	n/a
28	CTCF	chr12:11505990-11506144	K562	blood:	n/a	n/a
29	CTCF	chr12:11500860-11501010	Caco-2	colon:	n/a	n/a
30	CTCF	chr12:11500820-11500970	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr12:11500920-11501070	WI-38	lung:	n/a	n/a
32	CTCF	chr12:11500800-11501070	BJ	skin:	n/a	n/a
33	CTCF	chr12:11500800-11500950	GM12874	blood:	n/a	n/a
34	CTCF	chr12:11500880-11501030	GM12869	blood:	n/a	n/a
35	CTCF	chr12:11500858-11500979	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:11500840-11500990	HPF	lung:	n/a	n/a
37	CTCF	chr12:11500840-11500990	NB4	blood:	n/a	n/a
38	CTCF	chr12:11500800-11500950	GM12873	blood:	n/a	n/a
39	CTCF	chr12:11492997-11493057	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:11500840-11500990	HL-60	blood:	n/a	n/a
41	CTCF	chr12:11500840-11500990	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr12:11506052-11506137	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:11501300-11501450	SAEC	small airway:	n/a	n/a
44	CTCF	chr12:11500832-11501073	GM12878	blood:	n/a	n/a
45	CTCF	chr12:11500840-11500990	HMF	breast:	n/a	n/a
46	CTCF	chr12:11500840-11500990	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr12:11500840-11500990	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr12:11500860-11501010	GM12872	blood:	n/a	n/a
49	CTCF	chr12:11501522-11501562	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr12:11490383-11490444	Kidney_OC	kidney:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11508049-11508099	Hela-S3	cervix:	n/a
2	chr12:11508049-11508099	SKMC	muscle:	n/a
3	chr12:11509583-11509633	SAEC	small airway:	n/a
4	chr12:11509583-11509633	HMEC	breast:	n/a
5	chr12:11508049-11508099	NHBE	bronchial:	n/a
6	chr12:11508049-11508099	HCM	heart:	n/a
7	chr12:11508049-11508099	NHDF-neo	bronchial:	n/a
8	chr12:11509583-11509633	HEK293	kidney:	embryo
9	chr12:11509583-11509633	NT2-D1	testis:	n/a
10	chr12:11508049-11508099	HRCEpiC	kidney:	n/a
11	chr12:11508049-11508099	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:11508049-11508099	AG04450	lung:	fetal
13	chr12:11508049-11508099	A549	lung:	n/a
14	chr12:11508049-11508099	ovcar-3	ovarian:	n/a
15	chr12:11509583-11509633	MCF10A-Er-Src	breast:	n/a
16	chr12:11508049-11508099	T-47D	breast:	n/a
17	chr12:11508049-11508099	RPTEC	kidney:	n/a
18	chr12:11508049-11508099	HMEC	breast:	n/a
19	chr12:11509583-11509633	HCT-116	colon:	n/a
20	chr12:11509583-11509633	SK-N-SH	brain:	n/a
21	chr12:11509583-11509633	HUVEC	blood vessel:	n/a
22	chr12:11508049-11508099	AG10803	skin:	n/a
23	chr12:11509583-11509633	HAEpiC	amniotic membrane:	n/a
24	chr12:11509583-11509633	Hepatocyte	liver:	n/a
25	chr12:11509583-11509633	ovcar-3	ovarian:	n/a
26	chr12:11508049-11508099	IMR90	lung:	fetal
27	chr12:11509583-11509633	HRPEpiC	eye:	n/a
28	chr12:11509583-11509633	HCM	heart:	n/a
29	chr12:11508049-11508099	GM06990	blood:	n/a
30	chr12:11508049-11508099	HepG2	liver:	n/a
31	chr12:11509583-11509633	AG09319	gingival:	n/a
32	chr12:11509583-11509633	AG10803	skin:	n/a
33	chr12:11508049-11508099	HEK293	kidney:	embryo
34	chr12:11509583-11509633	GM12878	blood:	n/a
35	chr12:11508049-11508099	ECC-1	luminal epithelium:	n/a
36	chr12:11509583-11509633	NH-A	brain:	n/a
37	chr12:11508049-11508099	HUVEC	blood vessel:	n/a
38	chr12:11508049-11508099	GM19239	blood:	n/a
39	chr12:11509583-11509633	ProgFib	skin:	n/a
40	chr12:11508049-11508099	U87	brain:	n/a
41	chr12:11508049-11508099	BE2_C	brain:	n/a
42	chr12:11509583-11509633	A549	lung:	n/a
43	chr12:11509583-11509633	AG04450	lung:	fetal
44	chr12:11509583-11509633	LNCaP	prostate:	n/a
45	chr12:11508049-11508099	SK-N-SH_RA	brain:	n/a
46	chr12:11508049-11508099	PFSK-1	brain:	n/a
47	chr12:11508049-11508099	K562	blood:	n/a
48	chr12:11509583-11509633	PANC-1	pancreas:	n/a
49	chr12:11508049-11508099	MCF10A-Er-Src	breast:	n/a
50	chr12:11509583-11509633	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:
2	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:

No data

Variant related genes	Relation type
PRB1	TF binding region
PRB1	CpG island

Extended variants
information (count: 2374 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2374 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7307030	chr12:11478681-11478682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578168142	chr12:11478691-11478692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540445354	chr12:11478707-11478708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561241428	chr12:11478710-11478711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529392140	chr12:11478713-11478714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561040156	chr12:11478742-11478743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183675622	chr12:11478751-11478752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562601195	chr12:11478766-11478767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531733051	chr12:11478773-11478774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551457775	chr12:11478775-11478776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571531713	chr12:11478785-11478786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540514329	chr12:11478820-11478821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560226062	chr12:11478830-11478831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138534749	chr12:11478835-11478836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567466119	chr12:11478880-11478881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190632998	chr12:11478881-11478882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532124442	chr12:11478884-11478885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552325331	chr12:11478888-11478889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569603731	chr12:11478902-11478903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530171069	chr12:11478908-11478909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538651885	chr12:11478934-11478935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558234886	chr12:11478953-11478954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141605894	chr12:11478961-11478962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150739105	chr12:11478965-11478966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139109842	chr12:11478970-11478971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150032559	chr12:11478975-11478976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187896287	chr12:11478983-11478984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192376277	chr12:11478984-11478985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369322073	chr12:11478999-11479000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144361315	chr12:11479001-11479002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7133581	chr12:11479021-11479022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548446067	chr12:11479059-11479060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527631877	chr12:11479060-11479061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185442338	chr12:11479076-11479077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34017752	chr12:11479099-11479100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76318826	chr12:11479109-11479110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529918929	chr12:11479127-11479128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547667164	chr12:11479141-11479142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549975717	chr12:11479166-11479167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189982888	chr12:11479177-11479178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538343347	chr12:11479208-11479209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538468831	chr12:11479216-11479217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111599387	chr12:11479236-11479237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114020089	chr12:11479273-11479274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79702001	chr12:11479274-11479275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113420379	chr12:11479275-11479276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540491073	chr12:11479276-11479277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565527648	chr12:11479281-11479282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534276106	chr12:11479284-11479285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539417886	chr12:11479325-11479326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11478200-11479200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:11478800-11479400	Enhancers	HMEC	breast
3	chr12:11479000-11479200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:11479200-11480200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:11479200-11493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:11486800-11487000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:11493000-11493200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:11493000-11493400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:11493000-11494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:11494200-11496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:11496600-11496800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:11496800-11499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:11497200-11497800	Enhancers	HepG2	liver
14	chr12:11497800-11498600	Enhancers	Fetal Intestine Small	intestine
15	chr12:11498200-11498600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:11504000-11505000	Enhancers	HUVEC	blood vessel
17	chr12:11505000-11510400	Weak transcription	HUVEC	blood vessel
18	chr12:11506600-11507000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:11510000-11511000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:11510000-11511200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:11510400-11511000	Enhancers	HUVEC	blood vessel
22	chr12:11511000-11512400	Weak transcription	HUVEC	blood vessel
23	chr12:11511200-11519600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:11512400-11514000	Enhancers	HUVEC	blood vessel
25	chr12:11513000-11513800	Enhancers	HMEC	breast
26	chr12:11513000-11514000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:11513000-11514000	Enhancers	NHEK	skin
28	chr12:11513400-11513600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:11513600-11514200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:11513600-11521200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:11516600-11517000	Enhancers	HepG2	liver
32	chr12:11519600-11520200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:11520000-11520600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:11520200-11521200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:11521200-11521800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:11521400-11521600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:11529600-11529800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:11530200-11531200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:11539200-11539400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:11539400-11539800	Enhancers	H9 Cell Line	embryonic stem cell

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