Variant report

Variant	rs12120736
Chromosome Location	chr1:222148898-222148899
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12117316	0.88[EUR][1000 genomes]
rs12122410	0.86[AMR][1000 genomes]
rs12126368	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12129517	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12136244	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12137800	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140406	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1339869	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17011253	0.82[AMR][1000 genomes]
rs2153352	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2185327	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2378497	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2378498	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2790762	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2800859	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2800860	0.88[EUR][1000 genomes]
rs2970199	0.87[EUR][1000 genomes]
rs3121626	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5013041	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55756813	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56054113	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56236427	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61823896	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61823902	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61823903	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61823905	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs996854	0.85[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	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

No data

Chromatin state (count:16 , 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	chr1:222146200-222150800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:222146200-222163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:222146400-222149400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:222146400-222149400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:222146400-222151000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:222146400-222151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:222146400-222152200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:222147400-222149800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:222147600-222149200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:222147800-222152400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:222148200-222149000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:222148200-222149400	Enhancers	Hela-S3	cervix
14	chr1:222148600-222149400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
15	chr1:222148800-222149800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:222148800-222154800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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