Variant report

Variant	rs12128782
Chromosome Location	chr1:168310047-168310048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168303642..168305967-chr1:168309670..168312067,2	K562	blood:
2	chr1:168308797..168310371-chr1:168316245..168318028,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10489210	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10800356	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10918873	0.92[ASN][1000 genomes]
rs12034832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123087	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12136596	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12137679	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12403490	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12409703	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12566982	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1569467	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16860447	0.85[ASN][1000 genomes]
rs1977060	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2268556	0.84[ASN][1000 genomes]
rs2268557	0.85[ASN][1000 genomes]
rs2268559	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2268560	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2900726	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4656583	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6427127	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6670176	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6697421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7532903	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7555108	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs760685	0.94[CHD][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12128782	RGS5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168283800-168312800	Weak transcription	Spleen	Spleen
2	chr1:168291000-168311800	Weak transcription	Ovary	ovary
3	chr1:168294400-168310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:168302200-168311200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:168305200-168310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:168308400-168311600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:168308800-168311600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:168309200-168311200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:168309800-168311200	Enhancers	K562	blood
10	chr1:168310000-168310200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:168310000-168310200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:168310000-168311800	Enhancers	GM12878-XiMat	blood
13	chr1:168310000-168312800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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