Variant report

Variant	rs17727166
Chromosome Location	chr7:25606612-25606613
allele	A/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	SMC3	chr7:25604902-25607116	SK-N-SH	brain:	n/a	chr7:25605656-25605670 chr7:25605700-25605714
2	CTCF	chr7:25606540-25606690	BJ	skin:	n/a	n/a
3	RAD21	chr7:25603664-25607366	SK-N-SH	brain:	n/a	chr7:25605652-25605671 chr7:25605661-25605670 chr7:25605696-25605715
4	CTCF	chr7:25606540-25606690	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr7:25604546-25607266	SK-N-SH	brain:	n/a	chr7:25605699-25605715 chr7:25605661-25605668 chr7:25605693-25605714 chr7:25605654-25605672 chr7:25605700-25605713 chr7:25605649-25605670 chr7:25605655-25605671 chr7:25605698-25605716

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:25298951..25300126-chr7:25605192..25606795,18	K562	blood:

Variant related genes	Relation type
ENSG00000222101	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11539443	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151702	1.00[ASN][1000 genomes]
rs17251882	1.00[ASN][1000 genomes]
rs17317200	1.00[ASN][1000 genomes]
rs17367591	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17367682	1.00[ASN][1000 genomes]
rs17464623	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726931	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17783371	0.86[EUR][1000 genomes]
rs3857727	1.00[ASN][1000 genomes]
rs55803172	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55938803	1.00[ASN][1000 genomes]
rs56151685	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56175323	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234882	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56241258	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401538	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083979	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73084000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085920	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73085945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085983	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085990	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085991	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802027	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606426	chr7:25254125-25621579	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
4	nsv525378	chr7:25605725-25615221	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv526019	chr7:25606120-25615221	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv527227	chr7:25606120-25615221	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25604600-25608200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:25604800-25608200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:25605200-25606800	Enhancers	Fetal Kidney	kidney
4	chr7:25605400-25607000	Enhancers	Stomach Mucosa	stomach
5	chr7:25605600-25606800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:25606000-25607400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:25606200-25608000	Weak transcription	Fetal Lung	lung
8	chr7:25606600-25607000	Enhancers	Gastric	stomach

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