Variant report

Variant	rs2321979
Chromosome Location	chr6:164256879-164256880
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164255106..164256985-chr6:164259960..164261989,2	K562	blood:
2	chr6:164253956..164257557-chr6:164262191..164265409,3	K562	blood:
3	chr6:164251847..164253881-chr6:164255463..164257688,2	K562	blood:

Variant related genes	Relation type
ENSG00000266128	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10945921	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.89[ASN][1000 genomes]
rs10945924	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1555229	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16895332	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2321977	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2321978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709767	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4709768	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4709769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4709776	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62435339	0.86[ASN][1000 genomes]
rs62435340	0.84[ASN][1000 genomes]
rs62436876	0.86[ASN][1000 genomes]
rs62436877	0.86[ASN][1000 genomes]
rs62436878	0.85[ASN][1000 genomes]
rs62436879	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6455921	0.89[ASN][1000 genomes]
rs6455922	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6914115	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6914628	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6934397	0.86[ASN][1000 genomes]
rs6935481	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6938579	0.86[ASN][1000 genomes]
rs6938888	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7740670	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7742306	0.87[ASN][1000 genomes]
rs7750264	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7759487	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7765512	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs876738	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9295230	0.87[ASN][1000 genomes]
rs9355441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365618	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9365620	0.85[CHB][hapmap]
rs9365622	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9456886	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9458899	0.89[ASN][1000 genomes]
rs9458901	0.93[ASN][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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2321979	RNASET2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164250000-164258200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:164255800-164258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:164256000-164258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:164256600-164257000	Enhancers	Right Ventricle	heart
5	chr6:164256800-164257000	Enhancers	Fetal Muscle Trunk	muscle
6	chr6:164256800-164258000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:164256800-164258200	Enhancers	Brain Germinal Matrix	brain
8	chr6:164256800-164260600	Enhancers	Fetal Heart	heart

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