Variant report

Variant	rs35030447
Chromosome Location	chr15:40778717-40778718
allele	C/T
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	YY1	chr15:40778302-40778845	K562	blood:	n/a	chr15:40778471-40778481 chr15:40778535-40778547 chr15:40778470-40778482
2	GABPA	chr15:40778179-40778731	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40771099..40773628-chr15:40777295..40779621,2	K562	blood:
2	chr15:40749495..40752457-chr15:40777737..40780228,2	MCF-7	breast:
3	chr15:40768824..40772599-chr15:40776981..40779621,3	K562	blood:

Variant related genes	Relation type
ENSG00000259536	TF binding region
ENSG00000244251	Chromatin interaction
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10851396	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11852527	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11857247	0.89[EUR][1000 genomes]
rs12915563	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12916323	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1453183	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1901774	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2123534	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2412524	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3213999	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34750756	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36122190	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3743146	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3803353	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61048252	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62018030	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62018046	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62018048	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62018051	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7162749	0.80[EUR][1000 genomes]
rs7164385	0.89[EUR][1000 genomes]
rs7165054	0.81[EUR][1000 genomes]
rs7181909	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72733469	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs731640	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs733299	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8025458	0.80[EUR][1000 genomes]
rs8028910	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9672313	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs999197	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs35030447	C15orf57	cis	Adipose Subcutaneous	GTEx
rs35030447	RP11-111A22.1	cis	lung	GTEx
rs35030447	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs35030447	CCDC32	cis	multi-tissue	Pritchard
rs35030447	C15orf57	cis	Artery Tibial	GTEx
rs35030447	RP11-111A22.1	cis	Artery Tibial	GTEx
rs35030447	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs35030447	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs35030447	C15orf57	cis	lung	GTEx
rs35030447	DISP2	cis	Thyroid	GTEx
rs35030447	C15orf57	cis	Esophagus Muscularis	GTEx
rs35030447	ZFYVE19	cis	multi-tissue	Pritchard
rs35030447	C15orf57	cis	Nerve Tibial	GTEx
rs35030447	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs35030447	KNSTRN	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40778200-40779000	Active TSS	Primary monocytes fromperipheralblood	blood
2	chr15:40778200-40779200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:40778400-40778800	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
4	chr15:40778400-40778800	Active TSS	Placenta	Placenta
5	chr15:40778400-40778800	Active TSS	Right Ventricle	heart

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