Variant report

Variant	rs66459980
Chromosome Location	chr17:46672716-46672717
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	MAZ	chr17:46669362-46676749	IMR90	lung:	n/a	chr17:46669880-46669890 chr17:46671209-46671222 chr17:46671209-46671222 chr17:46669884-46669894 chr17:46673053-46673063
2	REST	chr17:46672551-46673075	PANC-1	pancreas:	n/a	chr17:46672592-46672612 chr17:46672903-46672917 chr17:46672905-46672915
3	CTBP2	chr17:46671319-46673025	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr17:46670436-46673044	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3AK20	chr17:46670331-46675986	PANC-1	pancreas:	n/a	n/a
6	CHD1	chr17:46662335-46676284	IMR90	lung:	n/a	chr17:46662455-46662465 chr17:46670083-46670093 chr17:46669891-46669901
7	SUZ12	chr17:46669440-46680361	NT2-D1	testis:	n/a	n/a
8	MXI1	chr17:46670335-46673027	IMR90	lung:	n/a	n/a
9	TCF7L2	chr17:46671229-46672791	PANC-1	pancreas:	n/a	chr17:46671659-46671673 chr17:46671661-46671670
10	POLR2A	chr17:46655911-46684927	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr17:46671195-46673088	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr17:46645331-46684907	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46422046..46424668-chr17:46671390..46673476,2	K562	blood:
2	chr17:46664818..46667926-chr17:46672135..46673972,3	MCF-7	breast:

Variant related genes	Relation type
HOXB-AS3	TF binding region
HOXB5	TF binding region
ENSG00000233101	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000141293	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1062037	0.86[ASN][1000 genomes]
rs1123630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939324	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12952262	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1529334	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3087996	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34490194	0.80[EUR][1000 genomes]
rs34527992	0.80[EUR][1000 genomes]
rs34822124	0.80[EUR][1000 genomes]
rs35624684	0.83[EUR][1000 genomes]
rs35825473	0.86[ASN][1000 genomes]
rs4646993	0.93[ASN][1000 genomes]
rs4793589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4793938	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4793939	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4793943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4793951	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62064564	0.80[EUR][1000 genomes]
rs67412921	0.86[ASN][1000 genomes]
rs872760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909884	0.83[ASN][1000 genomes]
rs9912500	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS 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	335 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv908580	chr17:46609103-46698710	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
10	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
11	nsv575480	chr17:46617019-46684929	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv908582	chr17:46617019-46698710	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
13	nsv908583	chr17:46617019-46704536	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv457822	chr17:46620402-46698710	Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
17	nsv575481	chr17:46620402-46698710	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh 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	334 gene(s)	inside rSNPs	diseases
18	nsv457823	chr17:46620402-46704536	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	342 gene(s)	inside rSNPs	diseases
19	nsv575482	chr17:46620402-46704536	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
20	nsv457824	chr17:46625519-46693491	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised 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	332 gene(s)	inside rSNPs	diseases
21	nsv575483	chr17:46625519-46693491	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs66459980	HOXB2	cis	Whole Blood	GTEx
rs66459980	HOXB2	cis	Thyroid	GTEx
rs66459980	HOXB2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46666400-46678600	Weak transcription	Hela-S3	cervix
2	chr17:46671000-46673400	Weak transcription	Pancreas	Pancrea
3	chr17:46671000-46676200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:46671200-46673000	Genic enhancers	Rectal Mucosa Donor 31	rectum
5	chr17:46671200-46674600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr17:46671400-46673600	Weak transcription	Right Atrium	heart
7	chr17:46671400-46674200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:46671400-46674600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr17:46671600-46672800	Bivalent Enhancer	Placenta	Placenta
10	chr17:46671600-46673000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
11	chr17:46671600-46673600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr17:46671600-46675600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:46671800-46672800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:46671800-46673400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:46671800-46674200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:46671800-46676200	Weak transcription	K562	blood
17	chr17:46672000-46673200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr17:46672000-46673200	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr17:46672000-46673600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:46672000-46673600	Weak transcription	HSMMtube	muscle
21	chr17:46672000-46673600	Bivalent Enhancer	NH-A	brain
22	chr17:46672000-46673800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:46672200-46673000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr17:46672200-46673000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:46672200-46673200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:46672200-46673400	Genic enhancers	Adipose Nuclei	Adipose
27	chr17:46672200-46673600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:46672400-46673000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr17:46672400-46673000	Enhancers	Gastric	stomach
30	chr17:46672400-46673000	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr17:46672400-46673400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:46672400-46673600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr17:46672400-46673600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
34	chr17:46672400-46674000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:46672400-46674000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:46672400-46674000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
37	chr17:46672400-46674200	Transcr. at gene 5' and 3'	NHLF	lung
38	chr17:46672400-46674400	Bivalent Enhancer	Spleen	Spleen
39	chr17:46672400-46676800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr17:46672400-46682600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:46672600-46672800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr17:46672600-46672800	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
43	chr17:46672600-46672800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
44	chr17:46672600-46672800	Bivalent Enhancer	Lung	lung
45	chr17:46672600-46672800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr17:46672600-46672800	Weak transcription	HUVEC	blood vessel
47	chr17:46672600-46673000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
48	chr17:46672600-46673000	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr17:46672600-46673200	Bivalent Enhancer	Fetal Stomach	stomach
50	chr17:46672600-46673400	Weak transcription	HSMM	muscle

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