Variant report

Variant	rs28449792
Chromosome Location	chr1:242156949-242156950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2090691	0.89[ASN][1000 genomes]
rs2090692	0.89[ASN][1000 genomes]
rs2102911	0.89[ASN][1000 genomes]
rs28477715	0.86[ASN][1000 genomes]
rs28489334	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28507487	0.84[ASN][1000 genomes]
rs28679399	0.84[ASN][1000 genomes]
rs28693018	0.89[ASN][1000 genomes]
rs28699136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28704168	0.89[ASN][1000 genomes]
rs28707795	0.89[ASN][1000 genomes]
rs34947819	0.89[ASN][1000 genomes]
rs55642098	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55692832	0.89[ASN][1000 genomes]
rs55823431	0.86[ASN][1000 genomes]
rs56347031	0.86[ASN][1000 genomes]
rs61844958	0.84[ASN][1000 genomes]
rs61844959	0.86[ASN][1000 genomes]
rs61846260	0.86[ASN][1000 genomes]
rs61846264	0.86[ASN][1000 genomes]
rs61846285	0.84[ASN][1000 genomes]
rs61846287	0.89[ASN][1000 genomes]
rs61846299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61846300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61846303	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72759104	0.86[ASN][1000 genomes]
rs72759106	0.89[ASN][1000 genomes]
rs72759107	0.89[ASN][1000 genomes]
rs72759108	0.89[ASN][1000 genomes]
rs72759110	0.89[ASN][1000 genomes]
rs72759113	0.89[ASN][1000 genomes]
rs72759115	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1008886	chr1:242015591-242176983	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1002309	chr1:242042242-242295635	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv3353742	chr1:242129501-242179261	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
10	nsv869647	chr1:242141471-242248271	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv508703	chr1:242146940-242252101	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242121400-242161800	Weak transcription	Right Atrium	heart
2	chr1:242152600-242161400	Weak transcription	Adipose Nuclei	Adipose
3	chr1:242152600-242161600	Weak transcription	Brain Germinal Matrix	brain
4	chr1:242153600-242158200	Weak transcription	Fetal Lung	lung
5	chr1:242153600-242161000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:242153600-242161400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:242154400-242161000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:242154400-242161600	Weak transcription	Ovary	ovary
9	chr1:242154600-242157000	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:242155200-242157000	Enhancers	Hela-S3	cervix
11	chr1:242155800-242157000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:242156600-242157200	Enhancers	Placenta	Placenta
13	chr1:242156600-242161600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:242156600-242161800	Weak transcription	NHDF-Ad	bronchial
15	chr1:242156800-242157000	Genic enhancers	Fetal Muscle Trunk	muscle

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