Variant report

Variant	rs12132917
Chromosome Location	chr1:184192775-184192776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1024298	0.86[EUR][1000 genomes]
rs1024299	0.86[EUR][1000 genomes]
rs1024300	0.86[EUR][1000 genomes]
rs10494577	0.97[EUR][1000 genomes]
rs10911523	0.83[EUR][1000 genomes]
rs10911528	0.82[EUR][1000 genomes]
rs10911529	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10911541	0.97[EUR][1000 genomes]
rs12117439	0.81[EUR][1000 genomes]
rs12117567	0.85[EUR][1000 genomes]
rs12119073	0.97[EUR][1000 genomes]
rs12119930	0.81[CEU][hapmap]
rs12119989	0.81[CEU][hapmap]
rs12129040	0.81[EUR][1000 genomes]
rs12136090	0.85[EUR][1000 genomes]
rs12142293	0.81[CEU][hapmap]
rs12401350	0.96[EUR][1000 genomes]
rs12401363	0.92[EUR][1000 genomes]
rs12402004	0.81[EUR][1000 genomes]
rs12402670	0.97[EUR][1000 genomes]
rs12403673	0.84[EUR][1000 genomes]
rs12408100	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12726078	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12742417	0.96[EUR][1000 genomes]
rs12746749	0.97[EUR][1000 genomes]
rs12754974	0.83[ASN][1000 genomes]
rs12755314	0.83[ASN][1000 genomes]
rs12756256	0.97[EUR][1000 genomes]
rs1318406	0.81[EUR][1000 genomes]
rs1327142	0.81[CEU][hapmap]
rs1409808	0.97[EUR][1000 genomes]
rs1409810	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1854085	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1930291	0.86[EUR][1000 genomes]
rs2161986	0.86[EUR][1000 genomes]
rs2161989	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2194700	0.81[EUR][1000 genomes]
rs2378840	0.97[EUR][1000 genomes]
rs34301155	0.85[EUR][1000 genomes]
rs34306471	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35861687	0.89[EUR][1000 genomes]
rs36020636	0.83[EUR][1000 genomes]
rs4263963	0.84[EUR][1000 genomes]
rs4651179	0.81[CEU][hapmap]
rs4651194	0.83[ASN][1000 genomes]
rs4651196	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57757593	0.86[EUR][1000 genomes]
rs58294748	0.81[EUR][1000 genomes]
rs6670049	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6690614	0.97[EUR][1000 genomes]
rs6697294	0.82[EUR][1000 genomes]
rs7518664	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7529843	0.87[EUR][1000 genomes]
rs890065	0.97[EUR][1000 genomes]
rs9650990	0.81[CEU][hapmap]
rs984419	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184180200-184194400	Weak transcription	Fetal Brain Male	brain
2	chr1:184182400-184193400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:184182400-184195400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:184191800-184192800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:184191800-184192800	Active TSS	A549	lung
6	chr1:184191800-184194600	Weak transcription	Fetal Brain Female	brain
7	chr1:184192000-184192800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:184192200-184192800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:184192200-184194600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:184192400-184192800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr1:184192600-184192800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:184192600-184192800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:184192600-184197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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