Variant report

Variant	rs73335075
Chromosome Location	chr5:126926003-126926004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs34236997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55654285	1.00[ASN][1000 genomes]
rs55749092	1.00[ASN][1000 genomes]
rs57117879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58380010	1.00[ASN][1000 genomes]
rs60285859	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654462	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61220586	1.00[ASN][1000 genomes]
rs6875028	1.00[ASN][1000 genomes]
rs6893537	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893881	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894854	1.00[ASN][1000 genomes]
rs6898899	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335069	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335078	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335089	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335092	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783908	1.00[ASN][1000 genomes]
rs73783909	1.00[ASN][1000 genomes]
rs73783910	1.00[ASN][1000 genomes]
rs73783911	1.00[ASN][1000 genomes]
rs73783912	1.00[ASN][1000 genomes]
rs73783913	1.00[ASN][1000 genomes]
rs73783914	1.00[ASN][1000 genomes]
rs73783917	1.00[ASN][1000 genomes]
rs73783918	1.00[ASN][1000 genomes]
rs73783922	1.00[ASN][1000 genomes]
rs73783923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783924	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73783925	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705105	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710290	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715074	1.00[ASN][1000 genomes]
rs7723932	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126921400-126936600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126922200-126939200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126922400-126926200	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:126924800-126926600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:126925000-126926400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:126925000-126926400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:126925000-126926600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:126925200-126926200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:126925200-126926400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr5:126925200-126926400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:126925400-126926600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126925600-126926400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:126925600-126926400	Enhancers	Fetal Thymus	thymus
14	chr5:126925600-126931200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:126925800-126926200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:126925800-126926200	Enhancers	Primary T cells from cord blood	blood
17	chr5:126926000-126926400	Flanking Active TSS	GM12878-XiMat	blood

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