Variant report

Variant	rs4130760
Chromosome Location	chr2:168293695-168293696
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10177399	0.85[ASN][1000 genomes]
rs10198766	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10803825	0.87[EUR][1000 genomes]
rs10930271	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12692859	0.81[ASN][1000 genomes]
rs1357600	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1357601	1.00[EUR][1000 genomes]
rs1357604	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1357607	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403892	1.00[EUR][1000 genomes]
rs1403893	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403896	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403903	1.00[EUR][1000 genomes]
rs1523881	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1523885	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1523886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1523887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1523889	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1880171	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1916744	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1916745	1.00[EUR][1000 genomes]
rs1996949	0.81[ASN][1000 genomes]
rs2030655	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2030656	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2091100	1.00[EUR][1000 genomes]
rs2140498	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2140500	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2204278	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2263240	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2617379	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2617380	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2617381	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2617393	0.81[ASN][1000 genomes]
rs2617394	0.81[ASN][1000 genomes]
rs2617398	0.81[ASN][1000 genomes]
rs2689826	0.81[ASN][1000 genomes]
rs2689828	0.81[ASN][1000 genomes]
rs2689838	0.94[AMR][1000 genomes]
rs2689843	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689844	0.83[ASN][1000 genomes]
rs2689845	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689846	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689847	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689848	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689851	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689853	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689855	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2927602	1.00[EUR][1000 genomes]
rs4363998	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667949	0.81[ASN][1000 genomes]
rs59534092	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62194917	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6704984	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725171	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6729570	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6747382	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6756997	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6759323	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759384	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73972270	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73972274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73972275	0.94[ASN][1000 genomes]
rs73972276	0.86[ASN][1000 genomes]
rs899185	0.81[ASN][1000 genomes]
rs998015	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3388045	chr2:168289403-168424317	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168284800-168294200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:168288800-168294400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:168289000-168300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:168289800-168294000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:168293200-168295600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:168293600-168295200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:168293600-168295600	Enhancers	HUES48 Cell Line	embryonic stem cell

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