Variant report

Variant	rs12024555
Chromosome Location	chr1:222147845-222147846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10218478	0.83[EUR][1000 genomes]
rs11118926	0.81[EUR][1000 genomes]
rs12022676	0.92[ASN][1000 genomes]
rs12025420	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12025565	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12029332	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12032598	0.81[ASN][1000 genomes]
rs12032653	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12032715	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12033415	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12120034	0.80[EUR][1000 genomes]
rs12121134	0.81[EUR][1000 genomes]
rs12123928	0.81[EUR][1000 genomes]
rs12124556	0.81[EUR][1000 genomes]
rs12125383	0.85[EUR][1000 genomes]
rs12129860	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12137323	0.81[EUR][1000 genomes]
rs12140604	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12731064	0.81[EUR][1000 genomes]
rs12739936	0.81[EUR][1000 genomes]
rs17011141	0.82[EUR][1000 genomes]
rs17011146	0.82[EUR][1000 genomes]
rs17011182	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17011200	0.81[EUR][1000 genomes]
rs17442058	0.82[EUR][1000 genomes]
rs17442323	0.81[EUR][1000 genomes]
rs17495159	0.81[EUR][1000 genomes]
rs2095928	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35212520	0.81[EUR][1000 genomes]
rs35805428	0.81[EUR][1000 genomes]
rs6687758	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6691195	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6695584	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72740077	0.81[EUR][1000 genomes]
rs7520544	0.81[EUR][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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3323289	chr1:222144429-222148627	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12024555	RP11-400N13.2	cis	lung	GTEx
rs12024555	RP11-815M8.1	cis	lung	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222139000-222152200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222142800-222148000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:222143800-222148400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:222146200-222150800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:222146200-222163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:222146400-222148800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:222146400-222149400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:222146400-222149400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:222146400-222151000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:222146400-222151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:222146400-222152200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:222147400-222149800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:222147600-222149200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:222147800-222148200	Weak transcription	Hela-S3	cervix
15	chr1:222147800-222148200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:222147800-222148600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:222147800-222152400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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