Variant report

Variant	rs73408540
Chromosome Location	chr12:117534836-117534837
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	MAFK	chr12:117534747-117535108	HepG2	liver:	n/a	n/a
2	MAFK	chr12:117534761-117535107	HepG2	liver:	n/a	n/a
3	MAFF	chr12:117534826-117535074	HepG2	liver:	n/a	n/a
4	ZNF263	chr12:117534563-117535408	HEK293-T-REx	kidney:	n/a	chr12:117535205-117535214

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117532874..117535627-chr12:117535692..117537759,3	K562	blood:

Variant related genes	Relation type
ENSG00000258285	TF binding region
ENSG00000088992	Chromatin interaction
ENSG00000258285	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12304807	1.00[EUR][1000 genomes]
rs12310638	1.00[EUR][1000 genomes]
rs61044549	1.00[EUR][1000 genomes]
rs71444609	1.00[EUR][1000 genomes]
rs7305302	1.00[EUR][1000 genomes]
rs7967445	1.00[EUR][1000 genomes]
rs7969053	1.00[EUR][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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:117528800-117536000	Weak transcription	Right Atrium	heart
3	chr12:117529600-117536000	Weak transcription	Lung	lung
4	chr12:117529800-117535000	Weak transcription	Spleen	Spleen
5	chr12:117530000-117535000	Weak transcription	K562	blood
6	chr12:117530200-117535200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:117531600-117535000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:117532400-117535200	Weak transcription	Fetal Thymus	thymus
9	chr12:117532600-117535200	Enhancers	Stomach Mucosa	stomach
10	chr12:117532600-117535400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:117533600-117536000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
12	chr12:117533800-117535200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:117533800-117535800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:117534000-117535200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr12:117534000-117535200	Enhancers	Left Ventricle	heart
16	chr12:117534200-117535200	Transcr. at gene 5' and 3'	HepG2	liver
17	chr12:117534200-117535800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
18	chr12:117534200-117536000	Weak transcription	Right Ventricle	heart
19	chr12:117534400-117536800	Flanking Active TSS	Dnd41	blood
20	chr12:117534600-117535400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:117534600-117535400	Flanking Active TSS	Pancreas	Pancrea
22	chr12:117534600-117535600	Enhancers	GM12878-XiMat	blood
23	chr12:117534600-117535800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:117534600-117535800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr12:117534600-117535800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:117534600-117535800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:117534600-117536200	Flanking Active TSS	A549	lung
28	chr12:117534600-117537400	Active TSS	Brain Anterior Caudate	brain
29	chr12:117534800-117535200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:117534800-117535200	Flanking Active TSS	Gastric	stomach
31	chr12:117534800-117535400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:117534800-117536000	Enhancers	Fetal Heart	heart
33	chr12:117534800-117537600	Active TSS	Pancreatic Islets	Pancreatic Islet

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