Variant report

Variant	rs73067425
Chromosome Location	chr12:29495476-29495477
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	chr12:29495413-29495671	HepG2	liver:	n/a	chr12:29495585-29495598 chr12:29495585-29495596 chr12:29495587-29495598 chr12:29495585-29495598 chr12:29495582-29495599 chr12:29495587-29495598

Variant related genes	Relation type
ERGIC2	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73063608	0.82[AFR][1000 genomes]
rs73065547	1.00[AFR][1000 genomes]
rs73067452	0.84[AFR][1000 genomes]
rs73067460	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
2	chr12:29462600-29533000	Weak transcription	Aorta	Aorta
3	chr12:29470000-29495600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:29470000-29500000	Weak transcription	K562	blood
5	chr12:29470800-29496000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:29470800-29508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:29470800-29532800	Weak transcription	Right Ventricle	heart
8	chr12:29471400-29495800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:29473800-29522600	Weak transcription	NHEK	skin
10	chr12:29476000-29496000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:29476000-29502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:29476200-29509400	Weak transcription	Spleen	Spleen
13	chr12:29476200-29512800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:29476200-29533400	Weak transcription	Pancreas	Pancrea
15	chr12:29476400-29498600	Weak transcription	Ovary	ovary
16	chr12:29476400-29509600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:29476400-29532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:29476400-29533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:29476600-29499200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:29477000-29517800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:29482000-29497200	Weak transcription	Brain Angular Gyrus	brain
22	chr12:29482200-29501400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:29483400-29518000	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:29483800-29496000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:29484200-29532000	Weak transcription	Fetal Brain Male	brain
26	chr12:29485000-29495800	Weak transcription	Fetal Kidney	kidney
27	chr12:29485600-29533400	Weak transcription	Gastric	stomach
28	chr12:29486400-29495800	Weak transcription	Fetal Heart	heart
29	chr12:29486800-29528600	Weak transcription	Psoas Muscle	Psoas
30	chr12:29487000-29533000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:29487800-29501400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:29488000-29495800	Weak transcription	GM12878-XiMat	blood
33	chr12:29488400-29496000	Weak transcription	Thymus	Thymus
34	chr12:29488600-29503800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:29488800-29532000	Weak transcription	NHLF	lung
36	chr12:29489200-29498800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:29489600-29497200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:29489600-29500000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:29489600-29525600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:29489800-29510000	Weak transcription	Brain Germinal Matrix	brain
41	chr12:29490000-29495800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:29490000-29502800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:29490000-29533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:29490000-29533400	Weak transcription	Esophagus	oesophagus
45	chr12:29490200-29502000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr12:29490200-29502200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:29490200-29506000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:29490400-29500600	Strong transcription	Dnd41	blood
49	chr12:29490400-29502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:29490400-29524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links