Variant report

Variant	rs2083284
Chromosome Location	chr1:85440023-85440024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11588160	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030730	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042018	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042845	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12042910	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045710	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371140	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1371141	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1371142	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1371143	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1837329	0.81[ASN][1000 genomes]
rs1853776	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028304	0.91[EUR][1000 genomes]
rs2083283	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55721024	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61768850	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61768852	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61768853	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61768854	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6672362	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6679539	0.91[EUR][1000 genomes]
rs6680422	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690464	0.85[ASN][1000 genomes]
rs6690583	0.85[ASN][1000 genomes]
rs6699356	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6699956	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522239	0.91[EUR][1000 genomes]
rs7547224	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7547317	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs893620	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv3515392	chr1:85437980-85465392	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3515393	chr1:85437980-85465392	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85435200-85440400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:85437400-85441200	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:85437400-85441200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:85437600-85441200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:85438000-85440200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:85438600-85440600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:85438600-85441000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:85438800-85440400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:85438800-85441200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
10	chr1:85439600-85440400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:85439600-85441000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:85439600-85441000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr1:85439800-85440200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:85439800-85440800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:85439800-85441000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:85440000-85440200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr1:85440000-85440200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:85440000-85441200	Enhancers	Rectal Mucosa Donor 31	rectum

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