Variant report

Variant	rs3128439
Chromosome Location	chr1:45738749-45738750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11802089	0.81[ASN][1000 genomes]
rs13374935	0.88[ASN][1000 genomes]
rs1938296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938407	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2186219	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2997458	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2997461	0.82[EUR][1000 genomes]
rs3009979	0.82[EUR][1000 genomes]
rs3121732	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3121736	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3121769	0.85[EUR][1000 genomes]
rs3128438	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3128440	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233496	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233497	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4376776	0.97[ASN][1000 genomes]
rs4376777	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4603171	1.00[ASN][1000 genomes]
rs55932948	0.82[ASN][1000 genomes]
rs56086213	0.82[ASN][1000 genomes]
rs57754814	0.82[ASN][1000 genomes]
rs58579477	0.94[ASN][1000 genomes]
rs60115828	0.94[ASN][1000 genomes]
rs61789823	1.00[ASN][1000 genomes]
rs61789838	0.94[ASN][1000 genomes]
rs61789841	0.92[ASN][1000 genomes]
rs6429561	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6429562	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6429563	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72686440	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 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	chr1:45732400-45739400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:45732400-45740600	Weak transcription	Stomach Mucosa	stomach
3	chr1:45732400-45748000	Weak transcription	Right Atrium	heart
4	chr1:45733400-45740800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:45736800-45740200	Weak transcription	HepG2	liver
6	chr1:45737800-45740600	Weak transcription	K562	blood
7	chr1:45738200-45739200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:45738200-45739200	Enhancers	Hela-S3	cervix
9	chr1:45738200-45739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:45738200-45739400	Enhancers	HUVEC	blood vessel
11	chr1:45738200-45739400	Enhancers	NHLF	lung
12	chr1:45738400-45739200	Enhancers	NH-A	brain
13	chr1:45738400-45739400	Enhancers	Osteobl	bone
14	chr1:45738400-45739600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:45738400-45741800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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