Variant report

Variant	rs2173526
Chromosome Location	chr1:224795359-224795360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1002131	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10799586	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10916644	0.86[EUR][1000 genomes]
rs10916645	0.86[EUR][1000 genomes]
rs10916647	0.86[EUR][1000 genomes]
rs10916648	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10916649	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10916655	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10916656	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042245	0.89[EUR][1000 genomes]
rs12042501	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12044182	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12044602	0.89[EUR][1000 genomes]
rs12046431	0.86[EUR][1000 genomes]
rs12047290	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12134248	0.86[EUR][1000 genomes]
rs12136356	0.84[EUR][1000 genomes]
rs12145617	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1909442	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2405312	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4653590	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4654048	0.86[EUR][1000 genomes]
rs4654050	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4654053	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4654054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4654059	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57674260	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59391065	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61825844	0.81[EUR][1000 genomes]
rs6426142	0.89[EUR][1000 genomes]
rs6667012	0.86[EUR][1000 genomes]
rs6681385	0.86[EUR][1000 genomes]
rs6696059	0.86[EUR][1000 genomes]
rs873691	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs883114	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9919286	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224794000-224796000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr1:224794000-224796200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:224794400-224795800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:224794400-224795800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:224794400-224796000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:224794400-224796200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:224794400-224796200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:224794400-224796200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:224794400-224796600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:224794400-224797000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:224794600-224796000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:224794600-224796600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:224794800-224795400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:224795200-224795600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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