Variant report

Variant	rs7133141
Chromosome Location	chr12:117540040-117540041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr12:117539752-117540228	A549	lung:	n/a	n/a
2	FOXA1	chr12:117539962-117540194	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117537725..117540420-chr12:117546898..117548910,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXW8-1	chr12:117539701-117540765	NONHSAT030981
2	lnc-FBXW8-1	chr12:117539701-117540765	NONHSAT030982

No data

Variant related genes	Relation type
TESC	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs61600841	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7314778	1.00[MEX][hapmap]
rs73408547	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954085	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7962894	0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7963062	0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7967445	1.00[MEX][hapmap]
rs9658447	1.00[MEX][hapmap]
rs9658478	1.00[MEX][hapmap]
rs9658483	1.00[MEX][hapmap]
rs9658574	1.00[MEX][hapmap]

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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117537600-117540600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr12:117537600-117556400	Weak transcription	Right Atrium	heart
3	chr12:117537800-117540200	Enhancers	A549	lung
4	chr12:117537800-117540400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:117537800-117543200	Weak transcription	Dnd41	blood
6	chr12:117538200-117540400	Enhancers	Fetal Thymus	thymus
7	chr12:117538800-117540800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:117538800-117540800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr12:117538800-117549200	Weak transcription	Pancreas	Pancrea
10	chr12:117539200-117540200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr12:117539400-117540400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:117539400-117540800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:117539600-117540400	Enhancers	HepG2	liver
14	chr12:117539600-117540600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:117539600-117540800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:117539800-117540800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:117539800-117540800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:117539800-117540800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:117540000-117540200	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr12:117540000-117540200	Enhancers	Left Ventricle	heart
21	chr12:117540000-117540400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr12:117540000-117540600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:117540000-117540800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr12:117540000-117548200	Weak transcription	Primary monocytes fromperipheralblood	blood

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