Variant report

Variant	rs17832583
Chromosome Location	chr5:177105020-177105021
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	STAT3	chr5:177104947-177105095	MCF10A-Er-Src	breast:	n/a	chr5:177104975-177104986
2	IRF1	chr5:177104948-177105025	K562	blood:	n/a	chr5:177104975-177104989 chr5:177104974-177104986 chr5:177104967-177104987 chr5:177104971-177104985 chr5:177104975-177104986 chr5:177104975-177104985 chr5:177104974-177104986 chr5:177104974-177104991

Variant related genes	Relation type
ENSG00000249849	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10036396	0.83[ASN][1000 genomes]
rs10040391	0.83[ASN][1000 genomes]
rs10063842	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1047577	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11249619	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13164561	0.86[ASN][1000 genomes]
rs1872623	0.96[CEU][hapmap];0.85[ASN][1000 genomes]
rs1963011	0.83[ASN][1000 genomes]
rs2133716	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2334991	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2650285	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28375402	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs34327383	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3965330	0.80[ASN][1000 genomes]
rs4458584	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs56981142	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59542146	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6600950	0.91[JPT][hapmap]
rs6882209	0.85[ASN][1000 genomes]
rs6886539	0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6889184	0.85[ASN][1000 genomes]
rs7703727	0.85[ASN][1000 genomes]
rs7708299	0.90[ASN][1000 genomes]
rs7731783	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv969021	chr5:177060702-177111251	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3385471	chr5:177098196-177106694	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
6	esv3518846	chr5:177099446-177106844	Active TSS Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
7	esv3518847	chr5:177099446-177106844	Active TSS Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
8	esv2762570	chr5:177101771-177138875	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17832583	FAM153A	cis	Heart Left Ventricle	GTEx
rs17832583	B4GALT7	cis	Muscle Skeletal	GTEx
rs17832583	RP11-1101H11.1	cis	Heart Left Ventricle	GTEx
rs17832583	FAM153C	cis	Esophagus Muscularis	GTEx
rs17832583	B4GALT7	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177104600-177105200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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