Variant report

Variant	rs8064626
Chromosome Location	chr17:46567851-46567852
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: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1022088	1.00[JPT][hapmap]
rs1042818	0.85[EUR][1000 genomes]
rs1042822	0.85[EUR][1000 genomes]
rs11868098	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12602539	0.86[EUR][1000 genomes]
rs12603976	0.86[EUR][1000 genomes]
rs12938390	0.86[EUR][1000 genomes]
rs12939811	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs12946855	0.84[EUR][1000 genomes]
rs12946931	0.86[EUR][1000 genomes]
rs12947405	0.86[EUR][1000 genomes]
rs12951076	0.83[EUR][1000 genomes]
rs17703636	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202895	0.88[EUR][1000 genomes]
rs2229302	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs2326012	0.86[EUR][1000 genomes]
rs34378400	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35621842	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs4793854	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4793889	0.94[EUR][1000 genomes]
rs55859232	0.88[EUR][1000 genomes]
rs56038617	0.88[EUR][1000 genomes]
rs56115209	0.82[EUR][1000 genomes]
rs56128659	0.86[EUR][1000 genomes]
rs62065846	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62066689	0.89[EUR][1000 genomes]
rs62066693	0.86[EUR][1000 genomes]
rs6504281	0.92[EUR][1000 genomes]
rs6504340	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs7207109	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs7207171	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222242	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225995	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8066613	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8071207	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8072250	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8073963	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs8074125	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs8079617	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs9904760	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9905940	0.80[EUR][1000 genomes]
rs9906950	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9989493	0.93[AMR][1000 genomes];0.95[EUR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8064626	HOXB2	cis	uninvolved skin	skin_eQTL
rs8064626	HOXB2	cis	Adipose Subcutaneous	GTEx
rs8064626	HOXB-AS1	cis	Whole Blood	GTEx
rs8064626	HOXB2	cis	Whole Blood	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

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	chr17:46562000-46569800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr17:46563600-46569200	Enhancers	K562	blood
5	chr17:46564600-46569400	Weak transcription	A549	lung
6	chr17:46564600-46569800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:46564600-46569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:46564600-46569800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr17:46564800-46569800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:46564800-46569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:46564800-46569800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:46565000-46569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:46565000-46569800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:46565000-46569800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:46565000-46569800	Weak transcription	NHDF-Ad	bronchial
16	chr17:46565600-46569800	Enhancers	Primary hematopoietic stem cells	blood
17	chr17:46566000-46568000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:46566200-46569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:46566400-46568200	Enhancers	Fetal Kidney	kidney
20	chr17:46566400-46569000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:46566400-46569000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:46566400-46569200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:46566400-46569800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:46566400-46569800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr17:46566400-46569800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:46566400-46569800	Weak transcription	Gastric	stomach
27	chr17:46566400-46569800	Weak transcription	HMEC	breast
28	chr17:46566600-46569000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr17:46566600-46569400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:46566600-46569400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:46566800-46568400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:46567200-46569000	Bivalent Enhancer	Fetal Lung	lung
33	chr17:46567400-46568000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:46567400-46568200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:46567600-46568000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:46567600-46568000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr17:46567600-46568000	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr17:46567600-46568000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr17:46567600-46568000	Enhancers	Rectal Smooth Muscle	rectum
40	chr17:46567600-46568400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:46567600-46568400	Enhancers	HSMMtube	muscle
42	chr17:46567600-46568600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr17:46567600-46568600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:46567600-46568600	Enhancers	Fetal Stomach	stomach
45	chr17:46567600-46568600	Enhancers	NHEK	skin
46	chr17:46567600-46568800	Enhancers	HSMM	muscle
47	chr17:46567600-46568800	Enhancers	NHLF	lung
48	chr17:46567800-46568000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr17:46567800-46568000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:46567800-46568000	Bivalent Enhancer	Fetal Thymus	thymus

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