Variant report

Variant	rs56314407
Chromosome Location	chr17:46706707-46706708
allele	A/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	JUND	chr17:46706707-46706729	K562	blood:	n/a	n/a
2	POLR2A	chr17:46706484-46706985	HCT-116	colon:	n/a	n/a
3	POLR2A	chr17:46692107-46708447	PANC-1	pancreas:	n/a	n/a
4	UBTF	chr17:46704759-46707390	K562	blood:	n/a	n/a
5	POLR2A	chr17:46695067-46708834	K562	blood:	n/a	n/a
6	POLR2A	chr17:46685805-46708856	PANC-1	pancreas:	n/a	n/a
7	RCOR1	chr17:46706702-46706929	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46177274..46179922-chr17:46706362..46708559,2	K562	blood:
2	chr17:46705274..46707056-chr17:46708654..46710864,2	MCF-7	breast:
3	chr17:46686493..46690300-chr17:46702976..46707350,6	MCF-7	breast:

Variant related genes	Relation type
HOXB-AS4	TF binding region
HOXB9	TF binding region
ENSG00000260027	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000210741	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55682497	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55786154	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827889	1.00[AFR][1000 genomes]
rs72829847	1.00[AFR][1000 genomes]
rs72829852	1.00[AFR][1000 genomes]
rs72829860	1.00[AFR][1000 genomes]
rs72829861	1.00[AFR][1000 genomes]
rs72829862	1.00[AFR][1000 genomes]
rs72829868	1.00[AFR][1000 genomes]
rs72829893	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829897	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829902	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831816	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831822	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831824	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72831829	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72831830	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9890510	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893432	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
4	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
5	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
6	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
7	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
8	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
9	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
10	nsv543380	chr17:46686151-46721371	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46705000-46708400	Weak transcription	A549	lung
2	chr17:46706000-46707000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
3	chr17:46706000-46707000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
4	chr17:46706400-46706800	Flanking Active TSS	K562	blood
5	chr17:46706600-46706800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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