Variant report

Variant	rs1684426
Chromosome Location	chr12:39190619-39190620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10160990	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1095573	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1095578	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169268	0.84[AFR][1000 genomes]
rs11169604	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11169615	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169618	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11537523	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1356267	0.81[EUR][1000 genomes]
rs1400281	0.85[EUR][1000 genomes]
rs1523119	0.82[EUR][1000 genomes]
rs1533917	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1533918	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1607040	0.83[EUR][1000 genomes]
rs1615648	0.82[EUR][1000 genomes]
rs1621487	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1719833	0.92[EUR][1000 genomes]
rs1719847	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1719860	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1914052	0.81[EUR][1000 genomes]
rs1996879	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2056529	0.85[EUR][1000 genomes]
rs2069210	0.87[AFR][1000 genomes]
rs4002228	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4494337	0.85[EUR][1000 genomes]
rs4768394	0.85[EUR][1000 genomes]
rs7298168	0.85[EUR][1000 genomes]
rs7974247	0.83[EUR][1000 genomes]
rs7978838	0.81[EUR][1000 genomes]
rs826845	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs826847	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs826849	0.91[EUR][1000 genomes]
rs826853	0.84[AFR][1000 genomes]
rs826857	0.84[AFR][1000 genomes]
rs826861	0.82[EUR][1000 genomes]
rs826862	0.82[EUR][1000 genomes]
rs826867	0.82[EUR][1000 genomes]
rs826869	0.84[AFR][1000 genomes]
rs826872	0.80[AFR][1000 genomes]
rs826882	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826884	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826885	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs862331	0.85[EUR][1000 genomes]
rs862332	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs866120	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv676	chr12:39184359-39215822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
2	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr12:39182600-39202800	Weak transcription	Liver	Liver
2	chr12:39184200-39205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:39188200-39193400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:39189800-39190800	ZNF genes & repeats	Lung	lung
5	chr12:39190200-39190800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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