Variant report

Variant	esv3448930
Chromosome Location	chr12:11420968-11461681
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	chr12:11457994-11458258	A549	lung:	n/a	chr12:11458153-11458164
2	CEBPB	chr12:11423258-11423283	HepG2	liver:	n/a	chr12:11423268-11423279
3	CEBPB	chr12:11458075-11458297	HepG2	liver:	n/a	chr12:11458153-11458164
4	CTCF	chr12:11423919-11423933	GM20000	blood:	n/a	n/a
5	CTCF	chr12:11439521-11439610	GM10248	blood:	n/a	n/a
6	CTCF	chr12:11422688-11422763	GM10248	blood:	n/a	chr12:11422749-11422757
7	CTCF	chr12:11423609-11423648	GM20000	blood:	n/a	n/a
8	CTCF	chr12:11421331-11421369	GM20000	blood:	n/a	n/a
9	CTCF	chr12:11439506-11439621	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr12:11421736-11421804	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr12:11434226-11434325	Medullo	brain:	n/a	n/a
12	CTCF	chr12:11459054-11459110	GM20000	blood:	n/a	n/a
13	E2F6	chr12:11450484-11450671	H1-hESC	embryonic stem cell:	n/a	n/a
14	EP300	chr12:11457689-11457748	K562	blood:	n/a	n/a
15	FOS	chr12:11426490-11426749	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
16	FOS	chr12:11433334-11433357	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr12:11426495-11426749	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
18	FOS	chr12:11426502-11426755	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
19	FOS	chr12:11460203-11460389	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
20	FOS	chr12:11426499-11426683	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
21	FOS	chr12:11460127-11460404	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
22	FOS	chr12:11460112-11460390	MCF10A-Er-Src	breast:	n/a	chr12:11460246-11460255
23	FOS	chr12:11460090-11460325	HUVEC	blood vessel:	n/a	chr12:11460246-11460255
24	FOS	chr12:11433639-11433673	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXA1	chr12:11443511-11443822	HepG2	liver:	n/a	n/a
26	FOXA2	chr12:11443519-11443782	A549	lung:	n/a	n/a
27	FOXA2	chr12:11450748-11451393	A549	lung:	n/a	n/a
28	FOXA2	chr12:11443363-11443966	A549	lung:	n/a	n/a
29	FOXA2	chr12:11450956-11451176	A549	lung:	n/a	n/a
30	HEY1	chr12:11443440-11443653	K562	blood:	n/a	n/a
31	JUN	chr12:11437399-11437634	HepG2	liver:	n/a	n/a
32	JUND	chr12:11437375-11437689	HepG2	liver:	n/a	n/a
33	MAFF	chr12:11433777-11433859	K562	blood:	n/a	n/a
34	MAFF	chr12:11433654-11433885	HepG2	liver:	n/a	n/a
35	MAFK	chr12:11433616-11433932	HepG2	liver:	n/a	chr12:11433769-11433789
36	MAFK	chr12:11433704-11433891	HepG2	liver:	n/a	chr12:11433769-11433789
37	MAFK	chr12:11433631-11433886	IMR90	lung:	n/a	chr12:11433769-11433789
38	MAZ	chr12:11433806-11433916	HepG2	liver:	n/a	n/a
39	MYC	chr12:11443266-11443358	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:11460768-11460894	ProgFib	skin:	n/a	n/a
41	POLR2A	chr12:11423749-11423799	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:11426329-11426415	A549	lung:	n/a	n/a
43	POLR2A	chr12:11437128-11437155	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:11437479-11437640	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:11450559-11450688	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:11450476-11450722	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:11424831-11424900	A549	lung:	n/a	n/a
48	POLR2A	chr12:11450816-11450952	H1-hESC	embryonic stem cell:	n/a	n/a
49	RFX5	chr12:11430723-11430748	K562	blood:	n/a	n/a
50	STAT3	chr12:11426954-11427033	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11460710-11460760	CMK	blood:	n/a
2	chr12:11423020-11423070	HCT-116	colon:	n/a
3	chr12:11460710-11460760	LNCaP	prostate:	n/a
4	chr12:11423120-11423170	K562	blood:	n/a
5	chr12:11422920-11422970	CMK	blood:	n/a
6	chr12:11460710-11460760	SK-N-SH	brain:	n/a
7	chr12:11422897-11422947	SK-N-SH_RA	brain:	n/a
8	chr12:11422897-11422947	A549	lung:	n/a
9	chr12:11460710-11460760	HCT-116	colon:	n/a
10	chr12:11423020-11423070	HNPCEpiC	eye:	n/a
11	chr12:11460710-11460760	BE2_C	brain:	n/a
12	chr12:11422897-11422947	SKMC	muscle:	n/a
13	chr12:11423120-11423170	MCF10A-Er-Src	breast:	n/a
14	chr12:11422897-11422947	AG04450	lung:	fetal
15	chr12:11423020-11423070	HAEpiC	amniotic membrane:	n/a
16	chr12:11423020-11423070	HCPEpiC	choroid plexus:	n/a
17	chr12:11423120-11423170	GM12892	blood:	n/a
18	chr12:11422897-11422947	SK-N-SH	brain:	n/a
19	chr12:11422897-11422947	HIPEpiC	eye:	n/a
20	chr12:11423120-11423170	HCF	heart:	n/a
21	chr12:11422920-11422970	NHBE	bronchial:	n/a
22	chr12:11423020-11423070	AoSMC	blood vessel:	n/a
23	chr12:11423120-11423170	SK-N-SH	brain:	n/a
24	chr12:11423120-11423170	ProgFib	skin:	n/a
25	chr12:11423020-11423070	Hepatocyte	liver:	n/a
26	chr12:11422897-11422947	NHBE	bronchial:	n/a
27	chr12:11423120-11423170	GM12891	blood:	n/a
28	chr12:11423020-11423070	GM12892	blood:	n/a
29	chr12:11460710-11460760	SK-N-SH_RA	brain:	n/a
30	chr12:11460710-11460760	Hepatocyte	liver:	n/a
31	chr12:11422897-11422947	PANC-1	pancreas:	n/a
32	chr12:11423120-11423170	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:11422920-11422970	SAEC	small airway:	n/a
34	chr12:11460710-11460760	HNPCEpiC	eye:	n/a
35	chr12:11423020-11423070	MCF10A-Er-Src	breast:	n/a
36	chr12:11423020-11423070	HEEpiC	esophagus:	n/a
37	chr12:11422920-11422970	HCPEpiC	choroid plexus:	n/a
38	chr12:11460710-11460760	AG09309	skin:	n/a
39	chr12:11423120-11423170	HUVEC	blood vessel:	n/a
40	chr12:11422897-11422947	Jurkat	blood:	n/a
41	chr12:11460710-11460760	GM12892	blood:	n/a
42	chr12:11422897-11422947	NH-A	brain:	n/a
43	chr12:11422897-11422947	Hela-S3	cervix:	n/a
44	chr12:11422920-11422970	NH-A	brain:	n/a
45	chr12:11423120-11423170	SKMC	muscle:	n/a
46	chr12:11423020-11423070	K562	blood:	n/a
47	chr12:11423020-11423070	BE2_C	brain:	n/a
48	chr12:11422920-11422970	IMR90	lung:	fetal
49	chr12:11460710-11460760	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:11422920-11422970	AG10803	skin:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRB4-1	chr12:11461162-11461375	NONHSAT026935
2	lnc-PRB4-1	chr12:11461584-11461816	NONHSAT026935
3	lnc-PRB4-2	chr12:11422540-11422641	NONHSAT026934
4	lnc-PRB4-2	chr12:11421567-11421602	NONHSAT026934
5	lnc-PRB4-2	chr12:11420927-11421082	NONHSAT026934

Variant related genes	Relation type
PRB3	TF binding region
PRB3	CpG island

Extended variants
information (count: 916 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71455366	chr12:11420972-11420973	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs71455369	chr12:11420988-11420989	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs200423165	chr12:11421001-11421002	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs533382585	chr12:11421002-11421003	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs71455364	chr12:11421004-11421005	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs374099158	chr12:11421016-11421017	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs61737268	chr12:11421024-11421025	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs199739275	chr12:11421029-11421030	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs560467592	chr12:11421030-11421031	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs529192462	chr12:11421035-11421036	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs71455367	chr12:11421038-11421039	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs71455368	chr12:11421044-11421045	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs368068621	chr12:11421049-11421050	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs71455370	chr12:11421064-11421065	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs200479477	chr12:11421067-11421068	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs533793961	chr12:11421068-11421069	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs142192897	chr12:11421086-11421087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201672979	chr12:11421090-11421091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150063839	chr12:11421093-11421094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386375614	chr12:11421094-11421095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397751088	chr12:11421095-11421096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71457862	chr12:11421104-11421105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368607745	chr12:11421108-11421109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566871692	chr12:11421168-11421169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146356225	chr12:11421174-11421175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555578002	chr12:11421229-11421230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575812869	chr12:11421273-11421274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151258805	chr12:11421335-11421336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76781478	chr12:11421339-11421340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375105313	chr12:11421353-11421354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114840940	chr12:11421372-11421373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560489334	chr12:11421387-11421388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529231574	chr12:11421467-11421468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372355132	chr12:11421513-11421514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59152757	chr12:11421522-11421523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs368193496	chr12:11421526-11421527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185042180	chr12:11421532-11421533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371946805	chr12:11421541-11421542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375160745	chr12:11421550-11421551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140477783	chr12:11421555-11421556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369518521	chr12:11421556-11421557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371326605	chr12:11421576-11421577	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs527393803	chr12:11421599-11421600	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs116632484	chr12:11421621-11421622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2277409	chr12:11421638-11421639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535813763	chr12:11421697-11421698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549201562	chr12:11421706-11421707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555659704	chr12:11421720-11421721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1968355	chr12:11421721-11421722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34570072	chr12:11421774-11421775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Breast cancer	22522925	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	20531469	CNVD
Cancer	20164920	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11407400-11440200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:11420400-11423000	Weak transcription	Pancreas	Pancrea
3	chr12:11422400-11422600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:11423000-11423200	ZNF genes & repeats	Pancreas	Pancrea
5	chr12:11424400-11425000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:11425000-11432400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:11426200-11427000	Enhancers	HMEC	breast
8	chr12:11429800-11433800	Weak transcription	Liver	Liver
9	chr12:11430600-11433200	Weak transcription	Left Ventricle	heart
10	chr12:11431000-11431200	Active TSS	Adipose Nuclei	Adipose
11	chr12:11431000-11433200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr12:11431200-11433400	Weak transcription	Adipose Nuclei	Adipose
13	chr12:11432400-11433000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:11433400-11434000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:11433400-11434200	Strong transcription	Adipose Nuclei	Adipose
16	chr12:11433800-11434000	ZNF genes & repeats	Liver	Liver
17	chr12:11434200-11434400	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr12:11449800-11450600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr12:11450200-11450600	Enhancers	Stomach Mucosa	stomach
20	chr12:11450200-11450800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr12:11450200-11450800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:11450200-11450800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:11450200-11450800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:11450400-11450800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr12:11450400-11450800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:11460200-11460800	Enhancers	HUVEC	blood vessel
27	chr12:11461200-11462200	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links