Variant report

Variant	rs7402286
Chromosome Location	chr15:79161906-79161907
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:79161862-79162105	IMR90	lung:	n/a	chr15:79161953-79161964 chr15:79161964-79161975
2	CEBPB	chr15:79161880-79162155	A549	lung:	n/a	chr15:79161953-79161964 chr15:79161964-79161975
3	CEBPB	chr15:79161831-79162155	K562	blood:	n/a	chr15:79161953-79161964 chr15:79161964-79161975
4	CEBPB	chr15:79161860-79162324	Hela-S3	cervix:	n/a	chr15:79161953-79161964 chr15:79161964-79161975
5	ZNF384	chr15:79161829-79162272	K562	blood:	n/a	n/a
6	CEBPB	chr15:79161825-79162120	HepG2	liver:	n/a	chr15:79161953-79161964 chr15:79161964-79161975

No.	Distal block	Cell Line	Cell type
1	chr15:79159472..79162276-chr15:79163039..79166313,4	K562	blood:
2	chr15:79160634..79162512-chr15:79167187..79168992,2	K562	blood:
3	chr15:79155567..79157074-chr15:79160395..79162108,2	K562	blood:

Variant related genes	Relation type
MORF4L1	TF binding region
ENSG00000185787	Chromatin interaction
ENSG00000243711	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10851913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851914	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11856903	0.80[ASN][1000 genomes]
rs12592340	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12595538	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12898532	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899800	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12911969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59772922	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6495346	0.85[ASN][1000 genomes]
rs7164529	0.84[ASN][1000 genomes]
rs7171258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7173955	0.81[ASN][1000 genomes]
rs7175271	0.84[ASN][1000 genomes]
rs7180375	0.89[ASN][1000 genomes]
rs7181033	0.85[ASN][1000 genomes]
rs734287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7497610	0.80[CHB][hapmap]
rs8042186	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8042638	0.82[EUR][1000 genomes]
rs892787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9806693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7402286	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79153000-79163200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:79153200-79163200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:79153200-79164600	Weak transcription	A549	lung
4	chr15:79156800-79164400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:79157200-79163400	Weak transcription	HepG2	liver
6	chr15:79161000-79164400	Weak transcription	Adipose Nuclei	Adipose
7	chr15:79161400-79163800	Weak transcription	Placenta	Placenta
8	chr15:79161400-79164600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:79161800-79164600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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