Variant report

Variant	esv33025
Chromosome Location	chr12:427523-432666
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	chr12:430816-431188	A549	lung:	n/a	chr12:430999-431010
2	CEBPB	chr12:430833-431166	K562	blood:	n/a	chr12:430999-431010
3	CEBPB	chr12:430744-431232	ECC-1	luminal epithelium:	n/a	chr12:430999-431010
4	CEBPB	chr12:430807-431200	Hela-S3	cervix:	n/a	chr12:430999-431010
5	CEBPB	chr12:430918-431082	HepG2	liver:	n/a	chr12:430999-431010
6	CEBPB	chr12:430841-431131	H1-hESC	embryonic stem cell:	n/a	chr12:430999-431010
7	CEBPB	chr12:430821-431182	HepG2	liver:	n/a	chr12:430999-431010
8	CEBPB	chr12:430737-431267	MCF-7	breast:	n/a	chr12:430999-431010
9	CEBPB	chr12:430788-431260	ECC-1	luminal epithelium:	n/a	chr12:430999-431010
10	CEBPB	chr12:430700-431242	A549	lung:	n/a	chr12:430999-431010
11	CEBPB	chr12:430827-431161	IMR90	lung:	n/a	chr12:430999-431010
12	CEBPB	chr12:430799-431225	MCF-7	breast:	n/a	chr12:430999-431010
13	CEBPB	chr12:430850-431088	HepG2	liver:	n/a	chr12:430999-431010
14	CEBPB	chr12:430794-431143	A549	lung:	n/a	chr12:430999-431010
15	CEBPD	chr12:430839-431061	HepG2	liver:	n/a	n/a
16	CTCF	chr12:430859-431073	Medullo	brain:	n/a	n/a
17	CTCF	chr12:430860-431010	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr12:430840-430990	SAEC	small airway:	n/a	n/a
19	CTCF	chr12:430820-430970	HPF	lung:	n/a	n/a
20	CTCF	chr12:430861-431017	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr12:430871-431059	LNCaP	prostate:	n/a	n/a
22	CTCF	chr12:430748-431179	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:430880-431030	AG04449	skin:	n/a	n/a
24	CTCF	chr12:430840-430990	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr12:430905-431030	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr12:430900-431050	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr12:430960-431110	HCM	heart:	n/a	n/a
28	CTCF	chr12:430800-430950	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr12:430900-431050	HCT-116	colon:	n/a	n/a
30	CTCF	chr12:430860-431010	RPTEC	kidney:	n/a	n/a
31	CTCF	chr12:430880-431030	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr12:430900-431050	AG04450	lung:	n/a	n/a
33	CTCF	chr12:430897-431005	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr12:430900-431050	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr12:430900-431050	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr12:431160-431310	SAEC	small airway:	n/a	n/a
37	CTCF	chr12:430880-431030	AG10803	skin:	n/a	n/a
38	CTCF	chr12:430950-430972	Gliobla	brain:	n/a	n/a
39	CTCF	chr12:430840-430990	BJ	skin:	n/a	n/a
40	CTCF	chr12:430870-431051	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr12:430900-431050	HepG2	liver:	n/a	n/a
42	CTCF	chr12:430840-430990	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr12:430905-431041	MCF-7	breast:	n/a	n/a
44	CTCF	chr12:430880-431030	HMEC	breast:	n/a	n/a
45	CTCF	chr12:430780-430930	A549	lung:	n/a	n/a
46	CTCF	chr12:430900-431050	Caco-2	colon:	n/a	n/a
47	CTCF	chr12:430779-431080	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:430884-431051	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:430944-430976	K562	blood:	n/a	n/a
50	CTCF	chr12:430860-431010	HA-sp	spinal cord:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:423846..425522-chr12:432470..434859,2	K562	blood:

Variant related genes	Relation type
KDM5A	TF binding region

Extended variants
information (count: 189 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369093435	chr12:427527-427528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373825473	chr12:427530-427531	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377329008	chr12:427536-427537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534326124	chr12:427537-427538	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76123932	chr12:427540-427541	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370420375	chr12:427568-427569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11062385	chr12:427575-427576	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs377487882	chr12:427599-427600	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539136628	chr12:427619-427620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577016513	chr12:427640-427641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201466319	chr12:427647-427648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374052815	chr12:427697-427698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140113284	chr12:427698-427699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183842571	chr12:427729-427730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150287808	chr12:427740-427741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188166314	chr12:427751-427752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546985941	chr12:427831-427832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117513216	chr12:427890-427891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544361934	chr12:427898-427899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34178999	chr12:427904-427905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142274426	chr12:427908-427909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556435346	chr12:427964-427965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545967987	chr12:428002-428003	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7303180	chr12:428003-428004	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs145894655	chr12:428122-428123	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374168891	chr12:428128-428129	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12303378	chr12:428131-428132	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562331434	chr12:428176-428177	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529482477	chr12:428183-428184	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559749950	chr12:428239-428240	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138446772	chr12:428298-428299	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114300686	chr12:428323-428324	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75219148	chr12:428324-428325	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551057701	chr12:428332-428333	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566134570	chr12:428486-428487	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142916103	chr12:428497-428498	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555257828	chr12:428508-428509	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573571514	chr12:428519-428520	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537728419	chr12:428535-428536	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144289066	chr12:428545-428546	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11611810	chr12:428634-428635	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs546326650	chr12:428645-428646	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558239790	chr12:428690-428691	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11608938	chr12:428693-428694	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs540600814	chr12:428697-428698	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562037807	chr12:428729-428730	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529624345	chr12:428736-428737	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544567928	chr12:428746-428747	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563142983	chr12:428747-428748	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10848715	chr12:428779-428780	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	22291905	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:389400-455200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr12:394000-474400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:400800-440800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:409400-439000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:409800-451600	Strong transcription	Fetal Thymus	thymus
6	chr12:411400-433600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:411600-438600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr12:411600-448000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:411600-450800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:411600-453800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:412000-428000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:412000-431000	Strong transcription	Liver	Liver
13	chr12:412000-433400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:412000-435800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:412000-438200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:412000-438400	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:412000-438600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr12:412000-448000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:412000-448200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:412000-448400	Strong transcription	Adipose Nuclei	Adipose
21	chr12:412000-453200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:412200-432600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:412200-434000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:412200-438200	Strong transcription	Thymus	Thymus
25	chr12:412200-438600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr12:412200-438600	Strong transcription	A549	lung
27	chr12:412200-445400	Strong transcription	Primary B cells from cord blood	blood
28	chr12:412200-452000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:412200-452800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:412200-453000	Strong transcription	Fetal Intestine Large	intestine
31	chr12:412200-453200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:412200-453400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:412400-435400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:412400-438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:412400-446600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr12:412400-454800	Strong transcription	Primary T cells from cord blood	blood
37	chr12:412600-432800	Strong transcription	Fetal Brain Female	brain
38	chr12:412600-439200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:412600-451200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:412800-448800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:412800-452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:412800-453200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr12:413000-451200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:413000-452800	Strong transcription	Dnd41	blood
45	chr12:413400-434800	Strong transcription	GM12878-XiMat	blood
46	chr12:413600-433600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:413800-433000	Strong transcription	NH-A	brain
48	chr12:413800-433400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:413800-435400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:413800-448800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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