Variant report

Variant	rs12112310
Chromosome Location	chr7:112587284-112587285
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	chr7:112579376..112581874-chr7:112583714..112588388,6	K562	blood:
2	chr7:112579425..112581874-chr7:112585299..112587492,4	K562	blood:

Variant related genes	Relation type
ENSG00000164603	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10228144	1.00[ASN][1000 genomes]
rs10229725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232962	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10241709	1.00[CHB][hapmap]
rs10265199	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10268162	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10500013	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12112671	1.00[CHB][hapmap]
rs17159980	0.91[ASW][hapmap];1.00[CHB][hapmap]
rs17160084	0.91[ASW][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1868588	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2060636	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28546198	1.00[ASN][1000 genomes]
rs28560010	1.00[ASN][1000 genomes]
rs28584529	1.00[ASN][1000 genomes]
rs28603026	1.00[ASN][1000 genomes]
rs28624855	1.00[ASN][1000 genomes]
rs28718671	0.82[EUR][1000 genomes]
rs28722087	1.00[ASN][1000 genomes]
rs59695601	0.87[EUR][1000 genomes]
rs6964755	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6968530	1.00[CHB][hapmap]
rs6968845	1.00[ASN][1000 genomes]
rs6973297	1.00[ASN][1000 genomes]
rs73195102	0.87[EUR][1000 genomes]
rs73196904	0.87[EUR][1000 genomes]
rs73196909	0.87[EUR][1000 genomes]
rs73196912	0.87[EUR][1000 genomes]
rs73196915	0.87[EUR][1000 genomes]
rs73196918	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341402	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73718127	1.00[ASN][1000 genomes]
rs73718130	1.00[ASN][1000 genomes]
rs73718137	1.00[ASN][1000 genomes]
rs7777041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781785	0.87[EUR][1000 genomes]
rs7794808	0.82[CEU][hapmap]
rs7798366	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800661	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer 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	10 gene(s)	inside rSNPs	diseases
5	esv3692941	chr7:112571420-112614215	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv1795316	chr7:112577657-112588734	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv1027981	chr7:112577657-112613212	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv1020911	chr7:112581515-112615249	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112581000-112593800	Weak transcription	Left Ventricle	heart

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