Variant report

Variant	rs12030666
Chromosome Location	chr1:86807748-86807749
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11161808	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12022446	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12023726	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12023799	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12029568	1.00[AMR][1000 genomes]
rs12032435	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12034967	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12037028	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12037391	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12038144	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12038844	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12039899	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12042822	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12043873	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12044970	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12045012	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12045465	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12046199	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12046894	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12047304	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12047305	0.80[ASN][1000 genomes]
rs12047913	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12048082	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12048329	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2274999	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28688345	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28788025	0.85[ASN][1000 genomes]
rs34204564	0.88[ASN][1000 genomes]
rs3737671	1.00[AMR][1000 genomes]
rs3765509	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3820038	0.83[AMR][1000 genomes]
rs4497186	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59775624	1.00[AMR][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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers 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 lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 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	chr1:86805400-86817400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:86805600-86810800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:86805600-86810800	Weak transcription	Fetal Lung	lung
4	chr1:86806400-86823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:86806600-86810800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links