Variant report

Variant	rs12402004
Chromosome Location	chr1:184167414-184167415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10494577	0.80[ASN][1000 genomes]
rs10911521	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911523	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10911528	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10911529	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10911541	0.80[ASN][1000 genomes]
rs11802235	0.95[ASN][1000 genomes]
rs11810038	0.86[ASN][1000 genomes]
rs12119073	0.80[ASN][1000 genomes]
rs12119930	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12119989	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12129040	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12132917	0.81[EUR][1000 genomes]
rs12136090	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12401732	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12402028	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12403264	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12408100	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12746749	0.80[ASN][1000 genomes]
rs12756256	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1409808	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1409810	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1854085	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2161989	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2194700	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378818	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2378820	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34301155	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34306471	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34518379	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36086128	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4650658	0.95[ASN][1000 genomes]
rs58294748	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660720	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6670049	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6678597	0.88[ASN][1000 genomes]
rs6694958	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6696567	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6697294	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7518664	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs890065	0.80[ASN][1000 genomes]
rs929942	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9650990	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs986595	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184160800-184169200	Weak transcription	Fetal Brain Female	brain
2	chr1:184161000-184168200	Weak transcription	Fetal Kidney	kidney
3	chr1:184161400-184168200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:184162600-184191400	Weak transcription	Right Ventricle	heart
5	chr1:184166400-184167800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:184166400-184170200	Weak transcription	Right Atrium	heart
7	chr1:184167000-184169000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:184167200-184168600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:184167200-184169600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:184167200-184171600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:184167400-184172800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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