Variant report

Variant	rs4794733
Chromosome Location	chr17:46567529-46567530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46563248..46569374-chr17:46695616..46701359,7	K562	blood:
2	chr17:46553255..46555504-chr17:46567161..46569215,2	K562	blood:
3	chr17:46566753..46569471-chr17:46581683..46584279,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1022088	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11868098	0.81[ASN][1000 genomes]
rs35755011	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4793854	0.81[ASN][1000 genomes]
rs4793870	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8072250	0.81[ASN][1000 genomes]
rs9904760	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1002528	chr17:46566180-46575960	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4794733	HOXB2	Cis_1M	lymphoblastoid	RTeQTL
rs4794733	HOXB2	cis	Whole Blood	GTEx
rs4794733	HOXB-AS1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46561400-46569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr17:46561400-46569600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46562000-46567600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr17:46562000-46569800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:46562400-46567800	Weak transcription	GM12878-XiMat	blood
6	chr17:46563600-46569200	Enhancers	K562	blood
7	chr17:46564200-46567600	Weak transcription	Adipose Nuclei	Adipose
8	chr17:46564600-46569400	Weak transcription	A549	lung
9	chr17:46564600-46569800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:46564600-46569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:46564600-46569800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:46564800-46567600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:46564800-46567600	Weak transcription	NHLF	lung
14	chr17:46564800-46569800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:46564800-46569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:46564800-46569800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:46565000-46567600	Weak transcription	HSMMtube	muscle
18	chr17:46565000-46567800	Weak transcription	NH-A	brain
19	chr17:46565000-46569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:46565000-46569800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:46565000-46569800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr17:46565000-46569800	Weak transcription	NHDF-Ad	bronchial
23	chr17:46565600-46569800	Enhancers	Primary hematopoietic stem cells	blood
24	chr17:46566000-46567600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr17:46566000-46568000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:46566200-46567600	Weak transcription	HSMM	muscle
27	chr17:46566200-46569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:46566400-46567600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:46566400-46567600	Weak transcription	NHEK	skin
30	chr17:46566400-46568200	Enhancers	Fetal Kidney	kidney
31	chr17:46566400-46569000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:46566400-46569000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:46566400-46569200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:46566400-46569800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr17:46566400-46569800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr17:46566400-46569800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:46566400-46569800	Weak transcription	Gastric	stomach
38	chr17:46566400-46569800	Weak transcription	HMEC	breast
39	chr17:46566600-46567800	Weak transcription	Placenta	Placenta
40	chr17:46566600-46569000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr17:46566600-46569400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr17:46566600-46569400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:46566800-46568400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:46567200-46569000	Bivalent Enhancer	Fetal Lung	lung
45	chr17:46567400-46567600	Enhancers	Colon Smooth Muscle	Colon
46	chr17:46567400-46568000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:46567400-46568200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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