Variant report

Variant	rs74086467
Chromosome Location	chr12:48381827-48381828
allele	A/G
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	ZBTB7A	chr12:48381787-48382613	ECC-1	luminal epithelium:	n/a	n/a
2	ZNF263	chr12:48381559-48381922	HEK293-T-REx	kidney:	n/a	chr12:48381692-48381713
3	MXI1	chr12:48381265-48381966	IMR90	lung:	n/a	n/a
4	POLR2A	chr12:48381507-48381922	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
COL2A1	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]
rs11574002	1.00[AMR][1000 genomes]
rs34116679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41272031	0.81[AFR][1000 genomes]
rs41272775	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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv899061	chr12:48360620-48389023	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv519659	chr12:48366449-48389245	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48359200-48384000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:48363400-48383000	Weak transcription	Spleen	Spleen
3	chr12:48376800-48391000	Weak transcription	Fetal Intestine Large	intestine
4	chr12:48379400-48382000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:48381000-48383600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:48381200-48382000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:48381200-48382600	Enhancers	Fetal Brain Male	brain
8	chr12:48381200-48385400	Enhancers	Fetal Muscle Leg	muscle
9	chr12:48381200-48385800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:48381400-48382400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:48381400-48382600	Bivalent Enhancer	Fetal Stomach	stomach
12	chr12:48381400-48383800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:48381400-48384400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:48381400-48386400	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:48381400-48386800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:48381400-48388800	Weak transcription	Fetal Intestine Small	intestine
17	chr12:48381600-48382000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:48381600-48382000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:48381600-48382000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr12:48381600-48382200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:48381600-48382200	Bivalent Enhancer	Fetal Lung	lung
22	chr12:48381600-48382200	Enhancers	Right Atrium	heart
23	chr12:48381600-48382600	Enhancers	Fetal Brain Female	brain
24	chr12:48381600-48383000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr12:48381600-48383200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:48381600-48383200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:48381800-48382000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:48381800-48382200	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr12:48381800-48382200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:48381800-48382200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr12:48381800-48382400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:48381800-48382600	Enhancers	Adipose Nuclei	Adipose
33	chr12:48381800-48382800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:48381800-48382800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:48381800-48383000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr12:48381800-48383000	Weak transcription	Fetal Thymus	thymus
37	chr12:48381800-48383800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:48381800-48383800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:48381800-48383800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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