Variant report

Variant	rs787835
Chromosome Location	chr12:120988468-120988469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr12:120987924-120988521	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:120987858-120988569	HepG2	liver:	n/a	n/a
3	FOXA1	chr12:120988076-120988531	HepG2	liver:	n/a	n/a
4	MAX	chr12:120987785-120988506	HepG2	liver:	n/a	n/a
5	TCF12	chr12:120987896-120988602	A549	lung:	n/a	n/a
6	NR2F2	chr12:120987812-120988502	HepG2	liver:	n/a	n/a
7	ELF1	chr12:120987883-120988481	HepG2	liver:	n/a	chr12:120988131-120988144
8	NFIC	chr12:120987850-120988520	HepG2	liver:	n/a	n/a
9	FOXA1	chr12:120987895-120988576	HepG2	liver:	n/a	n/a
10	MYBL2	chr12:120987963-120988522	HepG2	liver:	n/a	n/a
11	FOXA2	chr12:120987942-120988480	HepG2	liver:	n/a	n/a
12	MXI1	chr12:120987819-120988549	HepG2	liver:	n/a	n/a
13	SP1	chr12:120987931-120988508	HepG2	liver:	n/a	n/a
14	CEBPB	chr12:120987973-120988531	HepG2	liver:	n/a	n/a
15	ARID3A	chr12:120987832-120988497	HepG2	liver:	n/a	n/a
16	SP1	chr12:120987893-120988523	A549	lung:	n/a	n/a
17	EP300	chr12:120987895-120988561	HepG2	liver:	n/a	n/a
18	NFIC	chr12:120987912-120988547	HepG2	liver:	n/a	n/a
19	RXRA	chr12:120987791-120988496	HepG2	liver:	n/a	n/a
20	MYBL2	chr12:120987809-120988601	HepG2	liver:	n/a	n/a
21	EP300	chr12:120987913-120988572	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:120987944-120988542	HepG2	liver:	n/a	n/a
23	HNF4G	chr12:120988201-120988475	HepG2	liver:	n/a	chr12:120988360-120988368
24	MAFK	chr12:120988037-120988498	HepG2	liver:	n/a	n/a
25	TEAD4	chr12:120988157-120988497	A549	lung:	n/a	n/a
26	RXRA	chr12:120987931-120988498	HepG2	liver:	n/a	n/a
27	HDAC2	chr12:120987918-120988546	HepG2	liver:	n/a	n/a
28	NR2F2	chr12:120987772-120988523	HepG2	liver:	n/a	n/a
29	TEAD4	chr12:120988047-120988476	A549	lung:	n/a	n/a
30	ELF1	chr12:120987878-120988504	HepG2	liver:	n/a	chr12:120988131-120988144
31	MAX	chr12:120987827-120988484	A549	lung:	n/a	n/a
32	MBD4	chr12:120987905-120988473	HepG2	liver:	n/a	n/a
33	TEAD4	chr12:120987820-120988658	HepG2	liver:	n/a	n/a
34	CEBPB	chr12:120988075-120988527	A549	lung:	n/a	n/a
35	MAX	chr12:120987781-120988530	A549	lung:	n/a	n/a
36	EP300	chr12:120988022-120988511	HepG2	liver:	n/a	n/a
37	CEBPB	chr12:120988076-120988513	A549	lung:	n/a	n/a
38	BHLHE40	chr12:120988009-120988486	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120986321..120988616-chr12:120990306..120992869,4	MCF-7	breast:
2	chr12:120974437..120977304-chr12:120987855..120989624,2	K562	blood:
3	chr12:120881393..120884283-chr12:120987763..120989984,2	MCF-7	breast:
4	chr12:120971071..120973641-chr12:120986668..120988897,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF10	TF binding region
ENSG00000170855	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000257218	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1167717	1.00[AFR][1000 genomes]
rs1710135	1.00[AFR][1000 genomes]
rs9657933	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120977400-120995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
5	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
6	chr12:120977600-121016800	Strong transcription	Dnd41	blood
7	chr12:120982200-121017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:120983400-120990200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:120983400-120990200	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:120983600-120988800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:120983600-120989000	Strong transcription	GM12878-XiMat	blood
12	chr12:120983600-121017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:120983600-121017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:120983600-121017800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:120983600-121017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:120983600-121017800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:120983800-120988600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:120983800-121017800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:120983800-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:120984000-120988600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:120984000-120988600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:120984000-120989200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:120984000-120995000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:120984000-120996000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:120984000-121017800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr12:120984000-121017800	Strong transcription	Fetal Intestine Large	intestine
27	chr12:120984000-121017800	Strong transcription	Thymus	Thymus
28	chr12:120984000-121018200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:120984200-120996000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr12:120984200-121017400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:120984400-120996800	Strong transcription	Fetal Brain Female	brain
32	chr12:120984400-121018000	Strong transcription	Brain Germinal Matrix	brain
33	chr12:120984600-120988600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:120984600-120992000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:120984800-120989800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:120984800-120995600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:120985600-120992000	Weak transcription	Aorta	Aorta
38	chr12:120985600-121000800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:120985600-121018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:120985800-120992200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:120985800-120992400	Weak transcription	Fetal Heart	heart
42	chr12:120986200-120989400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:120986400-120990200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:120986600-120989600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:120986600-120989600	Weak transcription	NH-A	brain
46	chr12:120986600-120990600	Genic enhancers	Left Ventricle	heart
47	chr12:120986600-120992200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:120986600-120992200	Weak transcription	Fetal Brain Male	brain
49	chr12:120986600-120992200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:120986800-120989600	Genic enhancers	Placenta	Placenta

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