Variant report

Variant	rs71300388
Chromosome Location	chr3:145971000-145971001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11916269	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13062557	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13063066	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13064230	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071899	1.00[ASN][1000 genomes]
rs13072399	1.00[ASN][1000 genomes]
rs13073749	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082942	0.94[EUR][1000 genomes]
rs13085381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092543	1.00[ASN][1000 genomes]
rs13097291	1.00[ASN][1000 genomes]
rs1398124	1.00[ASN][1000 genomes]
rs2175666	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2175667	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34100380	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34286112	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34287919	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34363776	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34370775	1.00[ASN][1000 genomes]
rs34522376	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34839095	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34901415	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34965829	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35054584	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35110814	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35231667	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35366505	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35403397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35466414	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35632120	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35655354	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35658240	1.00[ASN][1000 genomes]
rs35723694	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35969224	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3804655	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3804656	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3828380	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6766764	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6782950	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6794565	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71300385	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71300386	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71300389	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71300390	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71300391	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73867526	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614839	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7642484	1.00[ASN][1000 genomes]
rs7652376	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877614	chr3:145903426-146025896	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv877615	chr3:145910430-145988231	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv877616	chr3:145921954-145983688	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3333601	chr3:145940702-146068210	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3416330	chr3:145941029-146068457	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3452197	chr3:145950303-145974111	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3333990	chr3:145950303-145982133	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv998388	chr3:145960954-146087749	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145969200-145974600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:145969200-145974800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:145970200-145971400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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