Variant report

Variant	rs10853101
Chromosome Location	chr17:46676460-46676461
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	MAZ	chr17:46669362-46676749	IMR90	lung:	n/a	chr17:46669880-46669890 chr17:46671209-46671222 chr17:46671209-46671222 chr17:46669884-46669894 chr17:46673053-46673063
2	ZNF263	chr17:46674255-46676504	HEK293-T-REx	kidney:	n/a	chr17:46676149-46676158 chr17:46675879-46675888
3	TCF7L2	chr17:46676313-46676472	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr17:46676125-46676632	ECC-1	luminal epithelium:	n/a	n/a
5	SUZ12	chr17:46669440-46680361	NT2-D1	testis:	n/a	n/a
6	POLR2A	chr17:46655911-46684927	PANC-1	pancreas:	n/a	n/a
7	SUZ12	chr17:46673328-46678417	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:46645331-46684907	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46673414..46676816-chr17:46677264..46681067,4	MCF-7	breast:
2	chr17:46674726..46677086-chr17:46686805..46690746,4	MCF-7	breast:
3	chr17:46675371..46683952-chr17:46685648..46690575,16	MCF-7	breast:
4	chr17:46674931..46679280-chr17:46681348..46684289,3	MCF-7	breast:
5	chr17:46503757..46506567-chr17:46674757..46677231,2	K562	blood:
6	chr17:46670234..46673454-chr17:46674972..46678750,4	MCF-7	breast:

Variant related genes	Relation type
HOXB6	TF binding region
HOXB-AS3	TF binding region
ENSG00000120075	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000233101	Chromatin interaction
ENSG00000260027	Chromatin interaction
ENSG00000108511	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2288278	0.86[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2288279	0.84[JPT][hapmap]
rs2740752	0.84[JPT][hapmap]
rs3809782	0.93[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs3826542	0.86[CHB][hapmap]
rs7405452	0.92[JPT][hapmap]
rs7406910	0.84[JPT][hapmap]
rs890431	0.84[JPT][hapmap]
rs890432	0.86[CHB][hapmap]
rs9221	0.92[JPT][hapmap]
rs9903182	0.92[JPT][hapmap]
rs9907987	0.84[JPT][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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10853101	PNPO	cis	parietal	SCAN
rs10853101	ACLY	cis	parietal	SCAN
rs10853101	HOXB2	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46666400-46678600	Weak transcription	Hela-S3	cervix
2	chr17:46672400-46676800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr17:46672400-46682600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:46672600-46677000	Active TSS	Fetal Kidney	kidney
5	chr17:46675600-46676600	Flanking Active TSS	HSMM	muscle
6	chr17:46675600-46679200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr17:46675800-46676600	Flanking Active TSS	NHDF-Ad	bronchial
8	chr17:46675800-46676600	Flanking Active TSS	NHLF	lung
9	chr17:46675800-46677000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:46675800-46677600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:46675800-46679000	Weak transcription	Pancreas	Pancrea
12	chr17:46676000-46676600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
13	chr17:46676000-46678600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:46676000-46679200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:46676200-46676600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr17:46676200-46676600	Enhancers	HUVEC	blood vessel
17	chr17:46676200-46676800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:46676200-46676800	Bivalent Enhancer	Fetal Lung	lung
19	chr17:46676200-46677600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:46676200-46677800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr17:46676200-46678000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:46676200-46679000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:46676200-46679800	Enhancers	K562	blood
24	chr17:46676400-46676600	Enhancers	Adipose Nuclei	Adipose
25	chr17:46676400-46676600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
26	chr17:46676400-46676600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr17:46676400-46676800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:46676400-46676800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:46676400-46676800	Genic enhancers	A549	lung
30	chr17:46676400-46677200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:46676400-46677600	Enhancers	Colon Smooth Muscle	Colon
32	chr17:46676400-46678000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr17:46676400-46678000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr17:46676400-46678800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:46676400-46678800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:46676400-46678800	Enhancers	Rectal Smooth Muscle	rectum
37	chr17:46676400-46679000	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr17:46676400-46679000	Weak transcription	HSMMtube	muscle

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