Variant report

Variant	rs10518197
Chromosome Location	chr4:79149532-79149533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10011303	0.94[ASN][1000 genomes]
rs10020592	0.93[ASN][1000 genomes]
rs10027981	0.82[EUR][1000 genomes]
rs10031070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11098094	0.84[EUR][1000 genomes]
rs11722519	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11725497	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11941469	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12510741	0.82[EUR][1000 genomes]
rs13115668	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1454896	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1454897	0.83[EUR][1000 genomes]
rs1470989	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869646	0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1952399	0.82[EUR][1000 genomes]
rs2124146	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168203	0.82[EUR][1000 genomes]
rs28493765	0.82[EUR][1000 genomes]
rs2867011	0.80[JPT][hapmap]
rs2867012	0.82[EUR][1000 genomes]
rs345514	0.83[JPT][hapmap]
rs4859918	0.81[EUR][1000 genomes]
rs4859920	0.81[EUR][1000 genomes]
rs6833721	0.86[CEU][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs7694740	0.81[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10518197	G3BP2	cis	cerebellum	SCAN
rs10518197	FBXL17	trans	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79144200-79176000	Weak transcription	Psoas Muscle	Psoas
2	chr4:79144600-79149800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:79144600-79150200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:79144600-79179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:79145000-79150000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:79145400-79150000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:79148600-79151400	Enhancers	Fetal Heart	heart
8	chr4:79148800-79150000	Weak transcription	HepG2	liver
9	chr4:79148800-79152000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:79149000-79149800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:79149000-79149800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:79149000-79150600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:79149000-79150600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:79149400-79151800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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