Variant report

Variant	nsv8883
Chromosome Location	chr12:430139-432823
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	chr12:430744-431232	ECC-1	luminal epithelium:	n/a	chr12:430999-431010
2	CEBPB	chr12:430833-431166	K562	blood:	n/a	chr12:430999-431010
3	CEBPB	chr12:430827-431161	IMR90	lung:	n/a	chr12:430999-431010
4	CEBPB	chr12:430788-431260	ECC-1	luminal epithelium:	n/a	chr12:430999-431010
5	CEBPB	chr12:430816-431188	A549	lung:	n/a	chr12:430999-431010
6	CEBPB	chr12:430807-431200	Hela-S3	cervix:	n/a	chr12:430999-431010
7	CEBPB	chr12:430841-431131	H1-hESC	embryonic stem cell:	n/a	chr12:430999-431010
8	CEBPB	chr12:430794-431143	A549	lung:	n/a	chr12:430999-431010
9	CEBPB	chr12:430799-431225	MCF-7	breast:	n/a	chr12:430999-431010
10	CEBPB	chr12:430821-431182	HepG2	liver:	n/a	chr12:430999-431010
11	CEBPB	chr12:430700-431242	A549	lung:	n/a	chr12:430999-431010
12	CEBPB	chr12:430918-431082	HepG2	liver:	n/a	chr12:430999-431010
13	CEBPB	chr12:430737-431267	MCF-7	breast:	n/a	chr12:430999-431010
14	CEBPB	chr12:430850-431088	HepG2	liver:	n/a	chr12:430999-431010
15	CEBPD	chr12:430839-431061	HepG2	liver:	n/a	n/a
16	CTCF	chr12:430920-431070	HCM	heart:	n/a	n/a
17	CTCF	chr12:430900-431050	Caco-2	colon:	n/a	n/a
18	CTCF	chr12:430680-430830	A549	lung:	n/a	n/a
19	CTCF	chr12:430880-431030	RPTEC	kidney:	n/a	n/a
20	CTCF	chr12:430860-431010	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr12:430920-431070	HCFaa	heart:	n/a	n/a
22	CTCF	chr12:430950-430972	Gliobla	brain:	n/a	n/a
23	CTCF	chr12:430860-431010	BE2_C	brain:	n/a	n/a
24	CTCF	chr12:430840-430990	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr12:430840-430990	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr12:430820-430970	AG04450	lung:	n/a	n/a
27	CTCF	chr12:430860-431010	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr12:430880-431030	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr12:430820-430970	HPF	lung:	n/a	n/a
30	CTCF	chr12:430780-430930	A549	lung:	n/a	n/a
31	CTCF	chr12:430861-431017	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr12:430870-431051	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr12:430840-430990	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:430900-431050	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr12:430900-431050	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr12:430869-431006	Lung_OC	lung:	n/a	n/a
37	CTCF	chr12:430860-431010	SAEC	small airway:	n/a	n/a
38	CTCF	chr12:430960-431110	HCM	heart:	n/a	n/a
39	CTCF	chr12:430820-430970	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:430940-431090	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr12:430900-431050	BE2_C	brain:	n/a	n/a
42	CTCF	chr12:430858-431076	LNCaP	prostate:	n/a	n/a
43	CTCF	chr12:430880-431030	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr12:430944-430976	K562	blood:	n/a	n/a
45	CTCF	chr12:430748-431179	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:430740-430890	HVMF	connective:	n/a	n/a
47	CTCF	chr12:430880-431030	HMEC	breast:	n/a	n/a
48	CTCF	chr12:430935-430988	GM13977	blood:	n/a	n/a
49	CTCF	chr12:430880-431030	HMF	breast:	n/a	n/a
50	CTCF	chr12:430820-430970	HCT-116	colon:	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: 99 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368401326	chr12:430143-430144	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370349922	chr12:430171-430172	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374040711	chr12:430191-430192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368205611	chr12:430201-430202	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371768167	chr12:430281-430282	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145317172	chr12:430296-430297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189610539	chr12:430300-430301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531368496	chr12:430385-430386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147630154	chr12:430397-430398	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181078012	chr12:430399-430400	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185165792	chr12:430476-430477	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373130013	chr12:430481-430482	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140507809	chr12:430490-430491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113310963	chr12:430546-430547	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549491077	chr12:430640-430641	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs764614	chr12:430652-430653	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs370969610	chr12:430664-430665	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538309193	chr12:430785-430786	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556297253	chr12:430790-430791	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577574832	chr12:430807-430808	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189829855	chr12:430810-430811	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556111002	chr12:430831-430832	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574559109	chr12:430854-430855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1541584	chr12:430875-430876	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553646826	chr12:430911-430912	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572343438	chr12:431038-431039	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542834792	chr12:431043-431044	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200953088	chr12:431052-431053	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182153899	chr12:431167-431168	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562880034	chr12:431198-431199	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145520591	chr12:431276-431277	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531279320	chr12:431303-431304	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543467706	chr12:431406-431407	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74055629	chr12:431477-431478	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562976913	chr12:431499-431500	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148859254	chr12:431504-431505	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143486400	chr12:431512-431513	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77928788	chr12:431517-431518	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375053143	chr12:431533-431534	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200653421	chr12:431585-431586	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74894801	chr12:431586-431587	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201777598	chr12:431592-431593	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200008654	chr12:431601-431602	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200652102	chr12:431605-431606	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199735103	chr12:431637-431638	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369603146	chr12:431645-431646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373480934	chr12:431655-431656	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376839905	chr12:431663-431664	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202066745	chr12:431715-431716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569798009	chr12:431750-431751	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:173 , 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	chr12:412000-431000	Strong transcription	Liver	Liver
12	chr12:412000-433400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:412000-435800	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:412000-438200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:412000-438400	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:412000-438600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr12:412000-448000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr12:412000-448200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:412000-448400	Strong transcription	Adipose Nuclei	Adipose
20	chr12:412000-453200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:412200-432600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:412200-434000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:412200-438200	Strong transcription	Thymus	Thymus
24	chr12:412200-438600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:412200-438600	Strong transcription	A549	lung
26	chr12:412200-445400	Strong transcription	Primary B cells from cord blood	blood
27	chr12:412200-452000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:412200-452800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:412200-453000	Strong transcription	Fetal Intestine Large	intestine
30	chr12:412200-453200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:412200-453400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:412400-435400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:412400-438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:412400-446600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:412400-454800	Strong transcription	Primary T cells from cord blood	blood
36	chr12:412600-432800	Strong transcription	Fetal Brain Female	brain
37	chr12:412600-439200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:412600-451200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:412800-448800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:412800-452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:412800-453200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr12:413000-451200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:413000-452800	Strong transcription	Dnd41	blood
44	chr12:413400-434800	Strong transcription	GM12878-XiMat	blood
45	chr12:413600-433600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:413800-433000	Strong transcription	NH-A	brain
47	chr12:413800-433400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:413800-435400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:413800-448800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:413800-452800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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