Variant report

Variant	rs58702553
Chromosome Location	chr17:46707989-46707990
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	TEAD4	chr17:46707287-46709131	K562	blood:	n/a	n/a
2	POLR2A	chr17:46707670-46708905	K562	blood:	n/a	n/a
3	EGR1	chr17:46707668-46708011	K562	blood:	n/a	chr17:46707819-46707834 chr17:46707823-46707832 chr17:46707820-46707833 chr17:46707820-46707833 chr17:46707820-46707833
4	POLR2A	chr17:46707658-46708020	K562	blood:	n/a	n/a
5	JUND	chr17:46707698-46708024	K562	blood:	n/a	n/a
6	MYC	chr17:46707187-46708905	K562	blood:	n/a	chr17:46707848-46707858
7	POLR2A	chr17:46692107-46708447	PANC-1	pancreas:	n/a	n/a
8	TBL1XR1	chr17:46707796-46708133	K562	blood:	n/a	n/a
9	POLR2A	chr17:46695067-46708834	K562	blood:	n/a	n/a
10	POLR2A	chr17:46685805-46708856	PANC-1	pancreas:	n/a	n/a
11	NR2F2	chr17:46707727-46710190	K562	blood:	n/a	n/a
12	EGR1	chr17:46707621-46707994	K562	blood:	n/a	chr17:46707819-46707834 chr17:46707823-46707832 chr17:46707820-46707833 chr17:46707820-46707833 chr17:46707820-46707833
13	POLR2A	chr17:46707807-46708023	K562	blood:	n/a	n/a
14	RCOR1	chr17:46707643-46709211	K562	blood:	n/a	n/a
15	POLR2A	chr17:46707724-46708902	K562	blood:	n/a	n/a
16	MAX	chr17:46707640-46707990	K562	blood:	n/a	chr17:46707848-46707858
17	TBL1XR1	chr17:46707587-46708968	K562	blood:	n/a	n/a
18	PML	chr17:46707779-46708928	K562	blood:	n/a	n/a
19	MXI1	chr17:46707732-46708184	K562	blood:	n/a	n/a
20	MYC	chr17:46707603-46708086	K562	blood:	n/a	chr17:46707848-46707858
21	UBTF	chr17:46707684-46708007	K562	blood:	n/a	n/a
22	BACH1	chr17:46707934-46708043	K562	blood:	n/a	n/a
23	MAX	chr17:46707582-46708219	K562	blood:	n/a	chr17:46707848-46707858
24	MAX	chr17:46707710-46708006	K562	blood:	n/a	chr17:46707848-46707858
25	POLR2A	chr17:46707935-46708310	HCT-116	colon:	n/a	n/a
26	MAX	chr17:46707705-46707995	NB4	blood:	n/a	chr17:46707848-46707858
27	UBTF	chr17:46707688-46709126	K562	blood:	n/a	n/a
28	SUZ12	chr17:46707905-46709950	H1-hESC	embryonic stem cell:	n/a	n/a
29	TBP	chr17:46707786-46709042	K562	blood:	n/a	n/a
30	POLR2A	chr17:46707606-46708070	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46177274..46179922-chr17:46706362..46708559,2	K562	blood:
2	chr17:46706915..46708436-chr17:46753619..46755678,2	K562	blood:
3	chr17:46707197..46710595-chr17:46985624..46988148,3	K562	blood:

Variant related genes	Relation type
HOXB9	TF binding region
ENSG00000248278	Chromatin interaction
ENSG00000159202	Chromatin interaction
ENSG00000108468	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2303488	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34582033	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35085494	0.89[EUR][1000 genomes]
rs4239158	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62064567	0.80[EUR][1000 genomes]
rs62064570	0.84[EUR][1000 genomes]
rs62064609	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71377382	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8066740	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9646424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58702553	HOXB2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46705000-46708400	Weak transcription	A549	lung
2	chr17:46706800-46708200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr17:46707000-46708000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
4	chr17:46707000-46708200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:46707600-46710400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr17:46707800-46708000	Bivalent/Poised TSS	Colonic Mucosa	Colon
7	chr17:46707800-46709400	Flanking Active TSS	K562	blood
8	chr17:46707800-46709800	Bivalent Enhancer	Fetal Intestine Large	intestine

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