Variant report

Variant	rs431959
Chromosome Location	chr1:76053293-76053294
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1265895	0.91[EUR][1000 genomes]
rs169830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs169831	0.91[EUR][1000 genomes]
rs1739901	0.91[EUR][1000 genomes]
rs182412	0.87[EUR][1000 genomes]
rs190026	0.94[EUR][1000 genomes]
rs211674	0.88[EUR][1000 genomes]
rs211677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211680	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211698	0.94[EUR][1000 genomes]
rs211701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211741	0.94[EUR][1000 genomes]
rs211742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211761	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211763	0.94[EUR][1000 genomes]
rs211765	0.94[EUR][1000 genomes]
rs211766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211767	0.94[EUR][1000 genomes]
rs211768	0.88[EUR][1000 genomes]
rs378926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405409	0.87[EUR][1000 genomes]
rs408340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417652	0.84[EUR][1000 genomes]
rs6593582	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9324206	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76049600-76054600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:76049800-76053600	Weak transcription	Fetal Brain Male	brain
3	chr1:76049800-76054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76051200-76054800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:76052400-76055200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:76052600-76053800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:76052800-76053800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:76052800-76053800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:76053000-76053800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:76053000-76054000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:76053200-76053800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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