Variant report

Variant	rs4951597
Chromosome Location	chr1:212600327-212600328
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212587274..212590722-chr1:212597664..212602492,6	K562	blood:
2	chr1:212585974..212594847-chr1:212598812..212609579,19	K562	blood:
3	chr1:212598606..212601343-chr1:212603803..212606120,2	K562	blood:

Variant related genes	Relation type
ENSG00000065600	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1056985	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs10863955	0.93[CEU][hapmap]
rs10863965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863966	0.82[JPT][hapmap]
rs11119886	0.93[CEU][hapmap]
rs11119891	1.00[CEU][hapmap]
rs11119910	0.91[CEU][hapmap]
rs11119918	0.95[CHB][hapmap]
rs11119927	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11119932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119934	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119936	0.81[ASN][1000 genomes]
rs11119940	1.00[MKK][hapmap]
rs11119941	1.00[MKK][hapmap]
rs11119951	1.00[MKK][hapmap]
rs11119953	1.00[MKK][hapmap]
rs12031941	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12033979	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12119779	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12128965	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs12133582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133636	0.95[CHB][hapmap]
rs12134599	0.95[CHB][hapmap]
rs12136095	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs12141427	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12143853	1.00[CEU][hapmap]
rs12145170	0.85[EUR][1000 genomes]
rs12145377	0.92[CEU][hapmap]
rs12145484	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs12239580	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12403586	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1342152	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs1388033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs14123	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap]
rs17018847	1.00[CEU][hapmap]
rs17018853	1.00[CEU][hapmap]
rs17666015	0.85[EUR][1000 genomes]
rs1808986	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1826214	1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2166155	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2298115	0.86[CEU][hapmap];0.95[CHB][hapmap]
rs3754144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3767867	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3767868	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3767872	0.83[AFR][1000 genomes]
rs3820513	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4338424	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548507	0.87[ASN][1000 genomes]
rs4951447	1.00[MKK][hapmap]
rs4951448	1.00[MKK][hapmap]
rs4951596	1.00[ASN][1000 genomes]
rs59001230	0.83[AFR][1000 genomes]
rs61828751	0.89[EUR][1000 genomes]
rs74138154	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903119	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4951597	PPP2R5A	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212591000-212605600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:212598400-212605600	Weak transcription	Brain Substantia Nigra	brain
3	chr1:212598600-212603800	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:212598800-212603800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:212598800-212605600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:212599000-212601800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:212600200-212600400	Enhancers	Placenta	Placenta

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