Variant report

Variant	rs7406798
Chromosome Location	chr17:46670520-46670521
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	SIN3AK20	chr17:46670500-46672191	PANC-1	pancreas:	n/a	n/a
3	MAX	chr17:46670472-46671042	ECC-1	luminal epithelium:	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	MAX	chr17:46670482-46670920	ECC-1	luminal epithelium:	n/a	n/a
7	CHD1	chr17:46662335-46676284	IMR90	lung:	n/a	chr17:46662455-46662465 chr17:46670083-46670093 chr17:46669891-46669901
8	CTCF	chr17:46670500-46671977	SK-N-SH	brain:	n/a	chr17:46671401-46671414 chr17:46671400-46671416 chr17:46671399-46671417
9	SUZ12	chr17:46669440-46680361	NT2-D1	testis:	n/a	n/a
10	MXI1	chr17:46670335-46673027	IMR90	lung:	n/a	n/a
11	ELF1	chr17:46670423-46670834	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:46670404-46672018	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr17:46670400-46671138	ECC-1	luminal epithelium:	n/a	n/a
14	CTBP2	chr17:46670467-46671007	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:46655911-46684927	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr17:46670422-46671106	HCT-116	colon:	n/a	n/a
17	POLR2A	chr17:46670484-46670899	A549	lung:	n/a	n/a
18	POLR2A	chr17:46670513-46672579	IMR90	lung:	n/a	n/a
19	POLR2A	chr17:46645331-46684907	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46621559..46624647-chr17:46668034..46670671,3	K562	blood:
2	chr17:46555079..46557571-chr17:46668928..46671035,2	K562	blood:

Variant related genes	Relation type
HOXB3	TF binding region
HOXB-AS3	TF binding region
ENSG00000206805	Chromatin interaction
ENSG00000230148	Chromatin interaction
ENSG00000173917	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2288277	0.80[ASW][hapmap]
rs2288279	0.80[ASW][hapmap]
rs4459585	0.82[AMR][1000 genomes]
rs4794726	0.82[AMR][1000 genomes]
rs4794741	1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs6416943	0.82[AMR][1000 genomes]
rs6504322	0.82[AMR][1000 genomes]
rs6504326	0.82[AMR][1000 genomes]
rs6504339	0.87[AMR][1000 genomes]
rs6504397	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6504414	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7209524	1.00[TSI][hapmap]
rs7224409	0.87[AMR][1000 genomes]
rs7405452	1.00[ASW][hapmap];0.83[LWK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs7406324	0.80[ASW][hapmap]
rs7406478	1.00[TSI][hapmap]
rs7406910	0.89[ASW][hapmap]
rs7502340	0.82[AMR][1000 genomes]
rs8182315	0.82[AMR][1000 genomes]
rs890431	0.89[ASW][hapmap]
rs9221	0.89[ASW][hapmap]
rs9906920	0.82[AMR][1000 genomes]
rs9907987	0.80[ASW][hapmap]

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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46663200-46672000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr17:46665600-46672400	Active TSS	NHDF-Ad	bronchial
3	chr17:46666400-46670600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:46666400-46678600	Weak transcription	Hela-S3	cervix
5	chr17:46666800-46671000	Weak transcription	HUVEC	blood vessel
6	chr17:46666800-46671600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr17:46668000-46671200	Weak transcription	K562	blood
8	chr17:46668000-46671600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr17:46668800-46670800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
10	chr17:46668800-46671400	Bivalent/Poised TSS	Fetal Lung	lung
11	chr17:46669000-46671200	Weak transcription	A549	lung
12	chr17:46669000-46671400	Bivalent/Poised TSS	NH-A	brain
13	chr17:46669000-46672200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:46669200-46671600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:46669200-46671600	Active TSS	Colon Smooth Muscle	Colon
16	chr17:46669200-46671600	Bivalent/Poised TSS	Fetal Stomach	stomach
17	chr17:46669200-46672000	Active TSS	Rectal Smooth Muscle	rectum
18	chr17:46669200-46672400	Active TSS	Fetal Kidney	kidney
19	chr17:46669200-46672400	Active TSS	NHLF	lung
20	chr17:46669400-46670600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:46669400-46670600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr17:46669400-46670800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:46669400-46670800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr17:46669400-46671000	Bivalent/Poised TSS	Lung	lung
25	chr17:46669400-46671000	Active TSS	HSMM	muscle
26	chr17:46669600-46670600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:46669600-46670600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:46669600-46670600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr17:46669600-46670600	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr17:46669600-46670600	Active TSS	Pancreas	Pancrea
31	chr17:46669600-46670600	Active TSS	Right Atrium	heart
32	chr17:46669600-46671000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chr17:46669600-46671000	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
34	chr17:46669600-46671400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr17:46669600-46671600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:46669600-46671600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
37	chr17:46669800-46670600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:46669800-46671200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
39	chr17:46669800-46671400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr17:46669800-46671800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:46670000-46670600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:46670000-46670600	Bivalent/Poised TSS	Right Ventricle	heart
43	chr17:46670000-46670600	Bivalent Enhancer	Spleen	Spleen
44	chr17:46670000-46670800	Bivalent Enhancer	Primary B cells from cord blood	blood
45	chr17:46670000-46671000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr17:46670000-46671000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr17:46670000-46671000	Bivalent Enhancer	Left Ventricle	heart
48	chr17:46670000-46671200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
49	chr17:46670000-46671200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:46670000-46671200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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