Variant report

Variant	rs12508087
Chromosome Location	chr4:95692641-95692642
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95677407..95680207-chr4:95691572..95693719,2	K562	blood:

Variant related genes	Relation type
ENSG00000138696	Chromatin interaction
ENSG00000249599	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11932119	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs12508155	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13116658	0.81[YRI][hapmap]
rs13139748	0.86[YRI][hapmap]
rs1553743	0.81[CHD][hapmap];0.81[MEX][hapmap]
rs17022123	0.93[YRI][hapmap]
rs17022377	0.87[YRI][hapmap]
rs3775007	0.81[YRI][hapmap]
rs4401458	0.93[CHB][hapmap];0.91[CHD][hapmap];0.91[ASN][1000 genomes]
rs4425388	0.93[CHB][hapmap];0.84[JPT][hapmap];0.98[ASN][1000 genomes]
rs4431232	0.82[ASN][1000 genomes]
rs4456963	0.87[ASW][hapmap];0.89[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4699673	0.80[CHD][hapmap];0.81[MEX][hapmap]
rs4699681	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4699683	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs6836126	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6842692	0.87[CHB][hapmap]
rs6844958	0.98[ASN][1000 genomes]
rs7673420	0.81[CEU][hapmap];0.89[CHB][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7694754	0.93[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs7694987	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs9307147	0.93[CHB][hapmap];0.82[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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12508087	ATOH1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95683000-95703600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:95686200-95695000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:95689800-95692800	Enhancers	A549	lung
4	chr4:95691800-95693800	Weak transcription	Psoas Muscle	Psoas

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