Variant report

Variant	rs71512703
Chromosome Location	chr8:20341363-20341364
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11992628	0.92[ASN][1000 genomes]
rs13252753	0.84[AFR][1000 genomes]
rs13255351	0.89[AFR][1000 genomes]
rs13275284	0.89[AFR][1000 genomes]
rs17092514	0.80[EUR][1000 genomes]
rs17092633	0.84[AFR][1000 genomes]
rs34349815	0.89[AFR][1000 genomes]
rs35145241	0.81[EUR][1000 genomes]
rs35159889	0.89[AFR][1000 genomes]
rs35573035	0.89[AFR][1000 genomes]
rs35959392	0.89[AFR][1000 genomes]
rs4922210	0.92[ASN][1000 genomes]
rs6989281	0.94[ASN][1000 genomes]
rs6999584	0.94[ASN][1000 genomes]
rs6999736	0.94[ASN][1000 genomes]
rs73609321	0.92[ASN][1000 genomes]
rs73611636	0.92[ASN][1000 genomes]
rs7812583	0.81[EUR][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3391932	chr8:20338072-20342370	Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20340400-20341800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:20340600-20341400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:20340600-20342000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:20341000-20341400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:20341000-20342000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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