Variant report

Variant	rs7971846
Chromosome Location	chr12:10090095-10090096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11610998	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11612095	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11612832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17204888	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2634166	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57926493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58430935	1.00[ASN][1000 genomes]
rs59775298	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59789233	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60732080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60806917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61913473	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61913476	0.94[EUR][1000 genomes]
rs637790	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7967565	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044587	chr12:10029514-10123414	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523050	chr12:10031880-10124373	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898755	chr12:10069302-10186284	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7971846	EMG1	cis	parietal	SCAN
rs7971846	ING4	cis	cerebellum	SCAN
rs7971846	CLEC2D	cis	parietal	SCAN
rs7971846	EMG1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10087000-10093200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:10087200-10093200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:10089800-10093200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:10089800-10095400	Weak transcription	Primary monocytes fromperipheralblood	blood

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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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