Variant report

Variant	rs72657018
Chromosome Location	chr4:79162244-79162245
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	POLR2A	chr4:79162116-79162328	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FRAS1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11722992	0.84[AMR][1000 genomes]
rs11725082	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11727545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11732889	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11934447	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11941234	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17422620	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17456396	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1823921	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58917172	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6533551	0.93[EUR][1000 genomes]
rs6533573	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6822773	0.98[EUR][1000 genomes]
rs6838168	0.83[AMR][1000 genomes]
rs6846522	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6853099	0.89[EUR][1000 genomes]
rs72657038	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72657042	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72657044	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72657046	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7664093	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription 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	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active 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	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv999844	chr4:79092549-79165869	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv879503	chr4:79108589-79163162	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79144200-79176000	Weak transcription	Psoas Muscle	Psoas
2	chr4:79144600-79179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79151600-79165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:79151800-79165000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:79152000-79162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:79154400-79173600	Weak transcription	HepG2	liver
7	chr4:79158800-79165600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:79158800-79165800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:79160400-79168800	Weak transcription	Fetal Lung	lung
10	chr4:79161800-79163000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:79161800-79165400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:79161800-79165400	Weak transcription	Fetal Intestine Large	intestine
13	chr4:79162000-79162400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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