Variant report

Variant	rs74084709
Chromosome Location	chr12:47606416-47606417
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:47606151-47606649	A549	lung:	n/a	n/a
2	CEBPB	chr12:47605875-47607064	A549	lung:	n/a	chr12:47606133-47606146
3	CHD2	chr12:47606232-47606560	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:47606108-47606649	A549	lung:	n/a	chr12:47606133-47606146
5	TEAD4	chr12:47606127-47606728	A549	lung:	n/a	n/a
6	MAX	chr12:47605815-47607001	A549	lung:	n/a	n/a
7	ELF1	chr12:47606086-47606652	A549	lung:	n/a	n/a
8	CEBPB	chr12:47606124-47606556	Hela-S3	cervix:	n/a	chr12:47606133-47606146
9	USF1	chr12:47606085-47606744	A549	lung:	n/a	n/a
10	RCOR1	chr12:47606247-47606611	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr12:47606160-47606736	A549	lung:	n/a	n/a
12	TCF12	chr12:47606058-47606992	A549	lung:	n/a	n/a
13	FOS	chr12:47606099-47606651	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPB	chr12:47606194-47606503	MCF-7	breast:	n/a	n/a
15	EP300	chr12:47606192-47606673	MCF-7	breast:	n/a	n/a
16	CREB1	chr12:47606119-47606534	A549	lung:	n/a	n/a
17	EP300	chr12:47606212-47606532	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr12:47606045-47606625	A549	lung:	n/a	chr12:47606369-47606378
19	CREB1	chr12:47606202-47606595	A549	lung:	n/a	n/a
20	EP300	chr12:47605882-47606931	A549	lung:	n/a	n/a
21	ZBTB33	chr12:47606122-47606730	A549	lung:	n/a	n/a
22	FOSL2	chr12:47606074-47606773	A549	lung:	n/a	n/a
23	CEBPB	chr12:47606157-47606524	HepG2	liver:	n/a	n/a
24	E2F4	chr12:47606230-47606506	MCF10A-Er-Src	breast:	n/a	n/a
25	JUND	chr12:47606152-47606646	A549	lung:	n/a	n/a
26	PBX3	chr12:47606080-47606724	A549	lung:	n/a	n/a
27	NR3C1	chr12:47606025-47606686	A549	lung:	n/a	n/a
28	GATA3	chr12:47605829-47607093	A549	lung:	n/a	n/a
29	CEBPB	chr12:47606054-47606820	A549	lung:	n/a	chr12:47606133-47606146
30	TEAD4	chr12:47606016-47606757	A549	lung:	n/a	n/a
31	SMC3	chr12:47606233-47606491	Hela-S3	cervix:	n/a	n/a
32	YY1	chr12:47606196-47606714	A549	lung:	n/a	n/a
33	ZNF143	chr12:47606332-47606538	Hela-S3	cervix:	n/a	n/a
34	FOS	chr12:47606117-47606747	MCF10A-Er-Src	breast:	n/a	n/a
35	GTF2F1	chr12:47606275-47606671	Hela-S3	cervix:	n/a	n/a
36	MYC	chr12:47606182-47606631	MCF10A-Er-Src	breast:	n/a	n/a
37	NR3C1	chr12:47605974-47606783	A549	lung:	n/a	n/a
38	RAD21	chr12:47606012-47606830	A549	lung:	n/a	n/a
39	MAX	chr12:47605871-47606974	A549	lung:	n/a	n/a
40	FOXA2	chr12:47606195-47606709	A549	lung:	n/a	n/a
41	RCOR1	chr12:47606341-47606736	K562	blood:	n/a	n/a
42	NR3C1	chr12:47606050-47606742	A549	lung:	n/a	n/a
43	TCF12	chr12:47605831-47606982	A549	lung:	n/a	n/a
44	NR3C1	chr12:47606028-47606680	A549	lung:	n/a	n/a
45	RAD21	chr12:47606006-47606827	A549	lung:	n/a	n/a
46	STAT3	chr12:47606165-47606604	MCF10A-Er-Src	breast:	n/a	n/a
47	CEBPB	chr12:47606134-47606499	IMR90	lung:	n/a	n/a
48	SIN3AK20	chr12:47605992-47606765	A549	lung:	n/a	n/a
49	SP1	chr12:47605885-47606898	A549	lung:	n/a	n/a
50	STAT3	chr12:47606170-47606726	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:47603497..47605103-chr12:47606291..47607826,2	MCF-7	breast:
2	chr12:47606333..47607962-chr12:47619491..47621970,2	K562	blood:
3	chr12:47598802..47603269-chr12:47603355..47607825,7	K562	blood:

No data

Variant related genes	Relation type
PCED1B	TF binding region
PCED1B-AS1	TF binding region
ENSG00000247774	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12301612	1.00[AMR][1000 genomes]
rs12303418	1.00[AMR][1000 genomes]
rs12306190	1.00[AMR][1000 genomes]
rs55799908	1.00[AMR][1000 genomes]
rs56398760	1.00[AMR][1000 genomes]
rs60488819	1.00[AMR][1000 genomes]
rs73297599	1.00[AMR][1000 genomes]
rs74084707	1.00[AMR][1000 genomes]
rs74084924	1.00[AMR][1000 genomes]
rs74084925	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47600000-47614600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:47600800-47614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:47600800-47616400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:47601000-47606800	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr12:47601400-47610000	Weak transcription	HSMM	muscle
7	chr12:47601400-47610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:47601400-47612000	Weak transcription	Gastric	stomach
9	chr12:47601400-47616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:47601600-47610400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:47601600-47617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
13	chr12:47602000-47608600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:47602000-47615200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:47602200-47616600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:47602600-47616400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:47603000-47608000	Weak transcription	Dnd41	blood
18	chr12:47603000-47608600	Weak transcription	Thymus	Thymus
19	chr12:47603000-47608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:47603000-47609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:47603200-47608200	Weak transcription	Fetal Thymus	thymus
22	chr12:47603200-47611800	Weak transcription	Spleen	Spleen
23	chr12:47603200-47615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:47603200-47616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:47603800-47608200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:47603800-47608200	Weak transcription	K562	blood
27	chr12:47604000-47608200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:47604200-47608600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:47604200-47608800	Weak transcription	GM12878-XiMat	blood
30	chr12:47604800-47612000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:47605200-47613000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr12:47605200-47613000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr12:47605200-47613600	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr12:47605800-47606800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:47605800-47606800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:47605800-47606800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:47605800-47606800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:47605800-47606800	Enhancers	Liver	Liver
39	chr12:47605800-47607000	Flanking Active TSS	A549	lung
40	chr12:47605800-47607000	Enhancers	NHEK	skin
41	chr12:47605800-47608600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:47606000-47606600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:47606000-47606600	Enhancers	Hela-S3	cervix
44	chr12:47606000-47606800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr12:47606000-47607000	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr12:47606000-47607000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:47606000-47607000	Enhancers	HMEC	breast
48	chr12:47606000-47607000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr12:47606000-47607400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:47606000-47608400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--

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