Variant report

Variant	rs71452921
Chromosome Location	chr12:107053762-107053763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12814523	1.00[ASN][1000 genomes]
rs12827304	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12833344	1.00[ASN][1000 genomes]
rs34855793	1.00[ASN][1000 genomes]
rs34956441	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34998821	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964177	1.00[ASN][1000 genomes]
rs61941947	1.00[ASN][1000 genomes]
rs61941956	1.00[ASN][1000 genomes]
rs71452919	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71452928	1.00[ASN][1000 genomes]
rs7316434	1.00[ASN][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	nsv560090	chr12:106935136-107223969	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv832511	chr12:106945654-107107828	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv9005	chr12:107019233-107367130	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv899505	chr12:107042891-107240432	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:107049400-107053800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:107050800-107057400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:107051000-107060400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:107051400-107054000	Weak transcription	Brain Anterior Caudate	brain
5	chr12:107052200-107058200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:107052400-107058400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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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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