Variant report

Variant	rs7405452
Chromosome Location	chr17:46674670-46674671
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	POLR2A	chr17:46674429-46674718	ProgFib	skin:	n/a	n/a
3	ZNF263	chr17:46674255-46676504	HEK293-T-REx	kidney:	n/a	chr17:46676149-46676158 chr17:46675879-46675888
4	SIN3AK20	chr17:46670331-46675986	PANC-1	pancreas:	n/a	n/a
5	CHD1	chr17:46662335-46676284	IMR90	lung:	n/a	chr17:46662455-46662465 chr17:46670083-46670093 chr17:46669891-46669901
6	SUZ12	chr17:46669440-46680361	NT2-D1	testis:	n/a	n/a
7	POLR2A	chr17:46673218-46676000	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr17:46673392-46675913	HEK293	kidney:	n/a	n/a
9	POLR2A	chr17:46655911-46684927	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr17:46673308-46675796	IMR90	lung:	n/a	n/a
11	SIN3AK20	chr17:46674340-46675854	PANC-1	pancreas:	n/a	n/a
12	SP1	chr17:46674004-46674737	H1-hESC	embryonic stem cell:	n/a	chr17:46674236-46674250 chr17:46674085-46674094 chr17:46674326-46674337 chr17:46674240-46674249 chr17:46674619-46674633 chr17:46674350-46674361 chr17:46674685-46674699 chr17:46674241-46674255
13	CTBP2	chr17:46673347-46675907	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:46674659-46674695	MCF-7	breast:	n/a	n/a
15	SUZ12	chr17:46673328-46678417	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr17:46645331-46684907	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46673414..46676816-chr17:46677264..46681067,4	MCF-7	breast:

Variant related genes	Relation type
HOXB5	TF binding region
HOXB-AS3	TF binding region
HOXB6	TF binding region
ENSG00000233101	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10853101	0.92[JPT][hapmap]
rs2288276	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2288277	0.89[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes]
rs2288278	0.83[JPT][hapmap]
rs2288279	0.89[ASW][hapmap];0.91[CEU][hapmap];0.90[CHB][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2555109	0.96[ASN][1000 genomes]
rs2740752	0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4646992	0.83[AMR][1000 genomes]
rs6504397	1.00[ASW][hapmap];0.81[LWK][hapmap];0.86[YRI][hapmap]
rs6504411	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6504414	0.81[AFR][1000 genomes]
rs7406170	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7406324	0.89[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7406798	1.00[ASW][hapmap];0.83[LWK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs7406910	0.89[ASW][hapmap];0.83[CEU][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.92[MKK][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8844	0.80[CHB][hapmap]
rs890431	0.89[ASW][hapmap];0.83[CEU][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9221	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9903182	0.83[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9905793	0.84[AMR][1000 genomes]
rs9907987	0.89[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46666400-46678600	Weak transcription	Hela-S3	cervix
2	chr17:46671000-46676200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:46671600-46675600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:46671800-46676200	Weak transcription	K562	blood
5	chr17:46672400-46676800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:46672400-46682600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:46672600-46677000	Active TSS	Fetal Kidney	kidney
8	chr17:46673200-46674800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr17:46673200-46674800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
10	chr17:46673200-46675200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:46673400-46674800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:46673400-46675000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:46673400-46675000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
14	chr17:46673400-46675400	Bivalent Enhancer	Fetal Thymus	thymus
15	chr17:46673400-46675600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:46673400-46675600	Active TSS	HSMM	muscle
17	chr17:46673600-46674800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr17:46673600-46674800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:46673600-46674800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
20	chr17:46673600-46674800	Bivalent Enhancer	Right Ventricle	heart
21	chr17:46673600-46675200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
22	chr17:46673600-46675200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
23	chr17:46673600-46675800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
24	chr17:46673600-46675800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:46673600-46675800	Active TSS	Right Atrium	heart
26	chr17:46673600-46675800	Active TSS	NHDF-Ad	bronchial
27	chr17:46673800-46674800	Enhancers	Gastric	stomach
28	chr17:46673800-46675000	Enhancers	Liver	Liver
29	chr17:46673800-46675000	Flanking Bivalent TSS/Enh	NHEK	skin
30	chr17:46673800-46675200	Active TSS	Lung	lung
31	chr17:46674000-46674800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr17:46674000-46674800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:46674000-46674800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
34	chr17:46674000-46674800	Bivalent Enhancer	HMEC	breast
35	chr17:46674000-46674800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr17:46674000-46675000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr17:46674000-46675000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
38	chr17:46674000-46675000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:46674000-46675200	Flanking Active TSS	Colonic Mucosa	Colon
40	chr17:46674000-46675400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr17:46674000-46675600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:46674000-46675800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:46674000-46675800	Bivalent/Poised TSS	Fetal Lung	lung
44	chr17:46674000-46676000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:46674000-46676400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr17:46674200-46674800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:46674200-46674800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:46674200-46674800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr17:46674200-46675000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
50	chr17:46674200-46675000	Genic enhancers	Sigmoid Colon	Sigmoid Colon

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