Variant report

Variant	rs4793579
Chromosome Location	chr17:46636258-46636259
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	CHD1	chr17:46628704-46638012	IMR90	lung:	n/a	chr17:46633605-46633615
2	POLR2A	chr17:46629941-46645329	PANC-1	pancreas:	n/a	n/a
3	SUZ12	chr17:46635256-46637739	NT2-D1	testis:	n/a	n/a
4	POLR2A	chr17:46633030-46638485	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
HOXB3	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs2740760	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4793927	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7225635	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[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	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
rs4793579	HOXB2	cis	Whole Blood	GTEx
rs4793579	HOXB2	Cis_1M	lymphoblastoid	RTeQTL
rs4793579	HOXB-AS1	cis	Whole Blood	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46627400-46637600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr17:46633200-46638000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:46633400-46637400	Weak transcription	Aorta	Aorta
4	chr17:46633400-46641000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr17:46633600-46638400	Transcr. at gene 5' and 3'	NHLF	lung
6	chr17:46633600-46638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:46633800-46636800	Enhancers	Colonic Mucosa	Colon
8	chr17:46633800-46638600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:46634200-46638800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:46634400-46637200	Active TSS	Esophagus	oesophagus
11	chr17:46634800-46637200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr17:46634800-46637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:46634800-46638600	Weak transcription	HSMMtube	muscle
14	chr17:46634800-46639000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:46635000-46636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:46635000-46636400	Weak transcription	A549	lung
17	chr17:46635000-46636800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:46635000-46636800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:46635000-46636800	Weak transcription	Spleen	Spleen
20	chr17:46635000-46638000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:46635000-46638800	Weak transcription	HSMM	muscle
22	chr17:46635000-46639400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr17:46635000-46654600	Weak transcription	Hela-S3	cervix
24	chr17:46635200-46637200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
25	chr17:46635200-46637800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr17:46635400-46636400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:46635400-46636400	Weak transcription	Adipose Nuclei	Adipose
28	chr17:46635400-46636800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr17:46635600-46636800	Active TSS	NHDF-Ad	bronchial
30	chr17:46635600-46637000	Weak transcription	K562	blood
31	chr17:46635600-46637400	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr17:46635600-46638800	Weak transcription	HUVEC	blood vessel
33	chr17:46635800-46637400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:46636000-46636400	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr17:46636000-46636600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:46636000-46637200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr17:46636000-46637200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr17:46636000-46637600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:46636000-46638400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:46636200-46636400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr17:46636200-46636400	Flanking Active TSS	Fetal Kidney	kidney
42	chr17:46636200-46636600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr17:46636200-46636600	Active TSS	Stomach Smooth Muscle	stomach
44	chr17:46636200-46637400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr17:46636200-46637600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:46636200-46639800	Genic enhancers	Fetal Stomach	stomach
47	chr17:46636200-46640600	Bivalent Enhancer	Duodenum Mucosa	Duodenum

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