Variant report

Variant	rs12721401
Chromosome Location	chr12:48279633-48279634
allele	C/T
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	chr12:48279407-48279703	K562	blood:	n/a	chr12:48279534-48279545
2	RUNX3	chr12:48278255-48279857	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:48279445-48279661	Hela-S3	cervix:	n/a	chr12:48279534-48279545
4	STAT5A	chr12:48278295-48279795	GM12878	blood:	n/a	chr12:48279059-48279071
5	CEBPB	chr12:48279411-48279700	A549	lung:	n/a	chr12:48279534-48279545
6	CEBPB	chr12:48279404-48279708	HepG2	liver:	n/a	chr12:48279534-48279545
7	CEBPB	chr12:48279370-48279675	K562	blood:	n/a	chr12:48279534-48279545
8	MTA3	chr12:48275926-48279701	GM12878	blood:	n/a	n/a
9	CEBPB	chr12:48279391-48280078	IMR90	lung:	n/a	chr12:48279534-48279545

Variant related genes	Relation type
VDR	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11574032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574046	1.00[AMR][1000 genomes]
rs12321826	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297462	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48265000-48283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:48275000-48279800	Enhancers	Fetal Intestine Large	intestine
4	chr12:48275200-48280000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:48275200-48280200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:48275600-48279800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:48275800-48280000	Enhancers	Fetal Thymus	thymus
8	chr12:48277000-48280200	Enhancers	HMEC	breast
9	chr12:48277000-48286200	Weak transcription	Right Atrium	heart
10	chr12:48277200-48280200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr12:48277200-48289600	Weak transcription	Esophagus	oesophagus
12	chr12:48277200-48290600	Weak transcription	Gastric	stomach
13	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:48277400-48279800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:48277400-48279800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:48277400-48279800	Enhancers	Spleen	Spleen
17	chr12:48277400-48280000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:48277400-48280000	Weak transcription	HSMM	muscle
19	chr12:48277400-48280400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:48277400-48280800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:48277400-48282200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:48277600-48279800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:48277600-48279800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:48277600-48280200	Enhancers	Primary T cells from cord blood	blood
25	chr12:48277600-48280600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:48277600-48281200	Weak transcription	HSMMtube	muscle
27	chr12:48277600-48282200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:48277600-48287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:48277600-48289000	Weak transcription	Hela-S3	cervix
30	chr12:48277800-48283000	Weak transcription	Primary B cells from cord blood	blood
31	chr12:48278200-48280400	Enhancers	K562	blood
32	chr12:48278400-48282400	Weak transcription	Small Intestine	intestine
33	chr12:48278400-48282400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:48278400-48283000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:48278400-48287400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
37	chr12:48278600-48280000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:48278600-48287800	Strong transcription	NHEK	skin
39	chr12:48278800-48279800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:48278800-48280800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:48278800-48281200	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:48279000-48279800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:48279000-48280400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:48279000-48280800	Enhancers	Osteobl	bone
45	chr12:48279000-48281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:48279200-48280000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:48279200-48280200	Weak transcription	NHLF	lung
48	chr12:48279200-48285800	Weak transcription	Colonic Mucosa	Colon
49	chr12:48279200-48286000	Weak transcription	Lung	lung
50	chr12:48279200-48287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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