Variant report

Variant	rs464906
Chromosome Location	chr5:94608224-94608225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94603930..94606301-chr5:94606313..94609446,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs154056	0.82[ASN][1000 genomes]
rs154057	0.82[ASN][1000 genomes]
rs255979	0.82[ASN][1000 genomes]
rs255981	0.82[ASN][1000 genomes]
rs255983	0.82[ASN][1000 genomes]
rs255984	0.82[ASN][1000 genomes]
rs255985	0.82[ASN][1000 genomes]
rs255986	0.82[ASN][1000 genomes]
rs255987	0.80[ASN][1000 genomes]
rs26393	0.80[CHB][hapmap];0.85[ASN][1000 genomes]
rs26394	0.85[ASN][1000 genomes]
rs26395	0.80[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs27688	0.90[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs27767	0.80[CHB][hapmap];0.85[ASN][1000 genomes]
rs27768	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs33810	0.86[ASN][1000 genomes]
rs33811	0.80[CHB][hapmap];0.86[CHD][hapmap];0.85[ASN][1000 genomes]
rs33813	0.85[ASN][1000 genomes]
rs395031	0.82[ASN][1000 genomes]
rs397826	0.82[CHB][hapmap];0.81[JPT][hapmap];0.98[ASN][1000 genomes]
rs421754	0.98[ASN][1000 genomes]
rs443272	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs448433	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs455516	0.94[ASN][1000 genomes]
rs457568	0.89[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs457819	0.97[ASN][1000 genomes]
rs458134	0.98[ASN][1000 genomes]
rs458663	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs458978	0.90[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs459730	0.90[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs460102	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs460363	0.90[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs460924	0.98[ASN][1000 genomes]
rs461018	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs461059	0.90[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs462526	0.97[ASN][1000 genomes]
rs462828	1.00[ASN][1000 genomes]
rs462862	1.00[ASN][1000 genomes]
rs463261	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[ASN][1000 genomes]
rs463587	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs463961	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs464001	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[ASN][1000 genomes]
rs464008	1.00[ASN][1000 genomes]
rs464084	0.97[ASN][1000 genomes]
rs464158	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs464971	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[ASN][1000 genomes]
rs465847	1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs467144	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs669335	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv432752	chr5:94524244-94691044	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs464906	MCTP1	cis	parietal	SCAN
rs464906	PLEKHG2	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94602400-94616200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links