Variant report

Variant	rs7976596
Chromosome Location	chr12:4468474-4468475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10450716	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10849041	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11063088	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11063089	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11063106	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12304233	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13312756	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13312762	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13312764	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17782421	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17782469	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3935187	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4444158	0.89[EUR][1000 genomes]
rs4766233	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4766234	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4766235	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60591544	0.83[EUR][1000 genomes]
rs61006360	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61309048	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71583759	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7398987	0.89[EUR][1000 genomes]
rs7485543	0.81[AMR][1000 genomes];0.89[EUR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv519278	chr12:4441906-4475194	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv528492	chr12:4462161-4473329	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4464000-4468600	Weak transcription	HUVEC	blood vessel
2	chr12:4464000-4469200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:4465200-4488400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:4465400-4474400	Weak transcription	Right Atrium	heart
5	chr12:4465400-4475200	Weak transcription	Gastric	stomach

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