Variant report

Variant	rs1438343
Chromosome Location	chr8:105715881-105715882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr8:105715803-105715898	K562	blood:	n/a	n/a
2	RCOR1	chr8:105715823-105716006	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000253350	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10088230	0.83[ASN][1000 genomes]
rs10101130	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10103495	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505064	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10955358	0.87[ASN][1000 genomes]
rs11783360	0.87[ASN][1000 genomes]
rs13250808	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13261792	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13271748	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1370797	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1442497	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1992211	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1992214	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28548678	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3847142	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3847144	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3910535	0.85[ASN][1000 genomes]
rs3964290	0.83[ASN][1000 genomes]
rs4039605	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4294157	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734809	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4734811	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4734812	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4734817	0.80[EUR][1000 genomes]
rs6983576	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6984657	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6985113	0.82[ASN][1000 genomes]
rs6994484	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7014956	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs725403	0.89[ASN][1000 genomes]
rs7826497	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7845583	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105713400-105716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:105713800-105716200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:105715600-105716800	Enhancers	K562	blood
4	chr8:105715800-105716000	Enhancers	Dnd41	blood
5	chr8:105715800-105716400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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