Variant report

Variant	rs12198
Chromosome Location	chr10:50362930-50362931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50361956..50364273-chr10:50509060..50511829,2	K562	blood:
2	chr10:50360501..50363437-chr10:50365924..50369669,5	K562	blood:
3	chr10:50358294..50360224-chr10:50361427..50364405,2	K562	blood:
4	chr10:50362714..50364544-chr10:50380646..50383055,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10218995	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[ASN][1000 genomes]
rs12255055	0.83[JPT][hapmap]
rs12771123	0.86[ASN][1000 genomes]
rs2002728	1.00[CEU][hapmap];0.94[CHB][hapmap];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2466744	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2466748	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2466756	0.81[CHD][hapmap]
rs2490836	0.86[ASN][1000 genomes]
rs2490837	0.95[ASN][1000 genomes]
rs2725180	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2725183	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2725186	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2725187	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2804933	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2804935	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2804936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2804938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2804939	0.81[CHD][hapmap]
rs2804942	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35307207	0.95[ASN][1000 genomes]
rs35351786	0.95[ASN][1000 genomes]
rs4317904	0.84[GIH][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs4319434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4319435	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4421674	0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs6537499	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7073645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7094217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73304790	0.86[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12198	MAPK8	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50359000-50382200	Weak transcription	Left Ventricle	heart
2	chr10:50359200-50363600	Weak transcription	Adipose Nuclei	Adipose
3	chr10:50359200-50375400	Weak transcription	Right Atrium	heart
4	chr10:50359400-50364600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:50359400-50365200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:50359400-50373400	Weak transcription	Right Ventricle	heart
7	chr10:50359400-50374000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:50359600-50364600	Weak transcription	Fetal Thymus	thymus
9	chr10:50362200-50370600	Weak transcription	Spleen	Spleen
10	chr10:50362400-50363200	Flanking Active TSS	K562	blood
11	chr10:50362400-50380600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:50362600-50365200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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