Variant report

Variant	rs3809781
Chromosome Location	chr17:46692573-46692574
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr17:46692124-46693029	PANC-1	pancreas:	n/a	n/a
2	MAX	chr17:46691271-46692715	A549	lung:	n/a	n/a
3	POLR2A	chr17:46692107-46708447	PANC-1	pancreas:	n/a	n/a
4	TCF7L2	chr17:46692427-46694161	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr17:46692396-46692753	HCT-116	colon:	n/a	n/a
6	POLR2A	chr17:46685805-46708856	PANC-1	pancreas:	n/a	n/a
7	MAX	chr17:46691312-46692657	A549	lung:	n/a	n/a
8	TCF7L2	chr17:46692167-46693615	HEK293	kidney:	n/a	n/a
9	TCF12	chr17:46691026-46692660	A549	lung:	n/a	chr17:46691609-46691619
10	SUZ12	chr17:46692444-46692943	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:46692091-46692736	HCT-116	colon:	n/a	n/a
12	SUZ12	chr17:46688630-46700411	NT2-D1	testis:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46692534-46692584	SKMC	muscle:	n/a
2	chr17:46692553-46692603	ECC-1	luminal epithelium:	n/a
3	chr17:46692553-46692603	NT2-D1	testis:	n/a
4	chr17:46692553-46692603	HRPEpiC	eye:	n/a
5	chr17:46692553-46692603	MCF-7	breast:	n/a
6	chr17:46692553-46692603	AG04449	skin:	fetal
7	chr17:46692534-46692584	RPTEC	kidney:	n/a
8	chr17:46692534-46692584	A549	lung:	n/a
9	chr17:46692553-46692603	IMR90	lung:	fetal
10	chr17:46692534-46692584	HCPEpiC	choroid plexus:	n/a
11	chr17:46692553-46692603	GM06990	blood:	n/a
12	chr17:46692553-46692603	HEEpiC	esophagus:	n/a
13	chr17:46692534-46692584	PANC-1	pancreas:	n/a
14	chr17:46692534-46692584	SK-N-MC	brain:	n/a
15	chr17:46692553-46692603	ovcar-3	ovarian:	n/a
16	chr17:46692534-46692584	NHDF-neo	bronchial:	n/a
17	chr17:46692534-46692584	NB4	blood:	n/a
18	chr17:46692553-46692603	HCT-116	colon:	n/a
19	chr17:46692534-46692584	HNPCEpiC	eye:	n/a
20	chr17:46692553-46692603	T-47D	breast:	n/a
21	chr17:46692534-46692584	NH-A	brain:	n/a
22	chr17:46692534-46692584	GM19239	blood:	n/a
23	chr17:46692534-46692584	MCF10A-Er-Src	breast:	n/a
24	chr17:46692534-46692584	HRE	kidney:	n/a
25	chr17:46692553-46692603	SK-N-MC	brain:	n/a
26	chr17:46692534-46692584	IMR90	lung:	fetal
27	chr17:46692534-46692584	HUVEC	blood vessel:	n/a
28	chr17:46692534-46692584	ovcar-3	ovarian:	n/a
29	chr17:46692534-46692584	PrEC	prostate:	n/a
30	chr17:46692534-46692584	ProgFib	skin:	n/a
31	chr17:46692534-46692584	ECC-1	luminal epithelium:	n/a
32	chr17:46692534-46692584	HEK293	kidney:	embryo
33	chr17:46692553-46692603	HCM	heart:	n/a
34	chr17:46692534-46692584	HCT-116	colon:	n/a
35	chr17:46692553-46692603	HAEpiC	amniotic membrane:	n/a
36	chr17:46692553-46692603	GM12891	blood:	n/a
37	chr17:46692534-46692584	HRCEpiC	kidney:	n/a
38	chr17:46692553-46692603	BJ	skin:	n/a
39	chr17:46692553-46692603	PrEC	prostate:	n/a
40	chr17:46692553-46692603	AG04450	lung:	fetal
41	chr17:46692553-46692603	HIPEpiC	eye:	n/a
42	chr17:46692534-46692584	Caco-2	colon:	n/a
43	chr17:46692534-46692584	AG04450	lung:	fetal
44	chr17:46692534-46692584	HEEpiC	esophagus:	n/a
45	chr17:46692534-46692584	GM12891	blood:	n/a
46	chr17:46692553-46692603	K562	blood:	n/a
47	chr17:46692553-46692603	AG10803	skin:	n/a
48	chr17:46692553-46692603	AoSMC	blood vessel:	n/a
49	chr17:46692553-46692603	HPAEpiC	pulmonary alveolar:	n/a
50	chr17:46692534-46692584	AG09319	gingival:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46687246..46688797-chr17:46690963..46692920,2	MCF-7	breast:
2	chr17:46424070..46425698-chr17:46692561..46695178,2	K562	blood:

No data

Variant related genes	Relation type
HOXB8	TF binding region
HOXB7	TF binding region
HOXB7	CpG island
HOXB8	CpG island
ENSG00000260027	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3809777	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3809778	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4619445	0.85[AMR][1000 genomes];0.96[EUR][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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46687200-46692800	Active TSS	NHDF-Ad	bronchial
2	chr17:46687400-46692800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:46688600-46697000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr17:46689000-46698000	Bivalent/Poised TSS	Fetal Kidney	kidney
5	chr17:46689600-46692600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
6	chr17:46689600-46693000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:46689600-46695600	Weak transcription	K562	blood
8	chr17:46690200-46692600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:46690400-46692600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:46690800-46692600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:46690800-46692600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:46690800-46693000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr17:46691200-46692800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr17:46691200-46693000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr17:46691400-46693000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
16	chr17:46691400-46693800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr17:46691600-46692800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
18	chr17:46691600-46693000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:46691600-46693000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr17:46691600-46693000	Bivalent Enhancer	Fetal Lung	lung
21	chr17:46691800-46692600	Bivalent Enhancer	Fetal Thymus	thymus
22	chr17:46691800-46692600	Bivalent/Poised TSS	HSMM	muscle
23	chr17:46691800-46693200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr17:46692000-46692600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr17:46692000-46692600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr17:46692000-46692600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
27	chr17:46692000-46692600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr17:46692000-46692600	Bivalent Enhancer	Placenta	Placenta
29	chr17:46692000-46692600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr17:46692000-46692600	Active TSS	HSMMtube	muscle
31	chr17:46692000-46692800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr17:46692000-46692800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
33	chr17:46692000-46692800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:46692000-46692800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
35	chr17:46692000-46693000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:46692000-46693600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr17:46692000-46693800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr17:46692000-46693800	Bivalent/Poised TSS	Colonic Mucosa	Colon
39	chr17:46692200-46692600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr17:46692200-46692600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:46692200-46692600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
42	chr17:46692400-46692600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:46692400-46692600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
44	chr17:46692400-46692600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:46692400-46692600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr17:46692400-46692600	Bivalent/Poised TSS	Lung	lung
47	chr17:46692400-46692800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:46692400-46693000	Flanking Active TSS	A549	lung

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