Variant report

Variant	rs12129296
Chromosome Location	chr1:58098152-58098153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10443241	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889059	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207075	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207080	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207090	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11800684	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11801131	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12123728	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12124076	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125360	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12125452	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17430851	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103142	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4484949	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6675237	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72676991	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72676993	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72910551	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7522826	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7532516	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7554762	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7554847	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012555	chr1:57950355-58103389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58090000-58098200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:58091000-58098800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:58092200-58098200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:58092200-58099000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:58092200-58099000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:58095200-58098800	Weak transcription	Fetal Brain Male	brain
7	chr1:58096000-58098200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:58097400-58098800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:58097400-58099200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:58097400-58099600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:58097600-58098800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:58097600-58100200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:58098000-58098400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:58098000-58098600	Enhancers	HMEC	breast
15	chr1:58098000-58099000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr1:58098000-58099200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:58098000-58099200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:58098000-58099200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:58098000-58099200	Enhancers	NHEK	skin
20	chr1:58098000-58099800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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