Variant report

Variant	rs12729618
Chromosome Location	chr1:171134783-171134784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10912478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912484	0.98[ASN][1000 genomes]
rs10912486	0.82[ASN][1000 genomes]
rs10912503	0.82[ASN][1000 genomes]
rs10912504	0.81[ASN][1000 genomes]
rs10912524	0.80[ASN][1000 genomes]
rs11803918	0.82[ASN][1000 genomes]
rs11804100	0.82[ASN][1000 genomes]
rs11806352	0.82[ASN][1000 genomes]
rs11806405	0.82[ASN][1000 genomes]
rs11807206	0.82[ASN][1000 genomes]
rs12129672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12132443	0.98[ASN][1000 genomes]
rs12133379	0.82[ASN][1000 genomes]
rs12134777	0.98[ASN][1000 genomes]
rs12136568	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12406402	0.98[ASN][1000 genomes]
rs12408043	0.82[ASN][1000 genomes]
rs12408253	0.80[ASN][1000 genomes]
rs12566068	0.80[ASN][1000 genomes]
rs12744605	0.98[ASN][1000 genomes]
rs2205730	0.98[ASN][1000 genomes]
rs2205732	0.82[ASN][1000 genomes]
rs2421707	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916410	0.98[ASN][1000 genomes]
rs61814303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6608456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7887295	0.98[ASN][1000 genomes]
rs7891433	0.98[ASN][1000 genomes]
rs9730437	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171129000-171137600	Weak transcription	Esophagus	oesophagus
2	chr1:171131200-171136000	Weak transcription	Fetal Lung	lung
3	chr1:171131600-171134800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:171134400-171137600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:171134600-171137400	Enhancers	HMEC	breast
6	chr1:171134600-171137800	Enhancers	Stomach Mucosa	stomach

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