Variant report

Variant	rs8066613
Chromosome Location	chr17:46583520-46583521
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46581860..46584451-chr17:57920963..57923173,2	MCF-7	breast:
2	chr17:46577428..46579209-chr17:46582700..46584447,2	K562	blood:
3	chr17:46582101..46583693-chr17:46591339..46593282,2	MCF-7	breast:
4	chr17:46581475..46583827-chr17:46593469..46596750,3	MCF-7	breast:
5	chr17:46582615..46585067-chr17:46605741..46607260,2	MCF-7	breast:
6	chr17:46581827..46584181-chr20:55513887..55516591,2	MCF-7	breast:
7	chr17:46566753..46569471-chr17:46581683..46584279,2	MCF-7	breast:
8	chr17:46581684..46585389-chr17:46696226..46700293,4	K562	blood:
9	chr17:46583450..46585256-chr17:46588689..46590687,2	MCF-7	breast:
10	chr17:46569342..46572136-chr17:46582152..46585021,2	MCF-7	breast:
11	chr17:46582924..46585539-chr17:46653556..46656243,2	MCF-7	breast:
12	chr17:46582522..46585256-chr17:46587191..46589212,2	K562	blood:
13	chr17:46572156..46575042-chr17:46583182..46586038,3	MCF-7	breast:
14	chr17:46575874..46579148-chr17:46581240..46583659,4	MCF-7	breast:

No data

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1022088	1.00[JPT][hapmap]
rs1042818	0.89[EUR][1000 genomes]
rs1042822	0.89[EUR][1000 genomes]
rs11868098	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12601713	0.81[EUR][1000 genomes]
rs12602539	0.90[EUR][1000 genomes]
rs12603976	0.90[EUR][1000 genomes]
rs12938390	0.90[EUR][1000 genomes]
rs12939811	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs12946855	0.88[EUR][1000 genomes]
rs12946931	0.90[EUR][1000 genomes]
rs12947405	0.90[EUR][1000 genomes]
rs12951076	0.87[EUR][1000 genomes]
rs17703636	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17703660	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2202895	0.92[EUR][1000 genomes]
rs2229302	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs2326012	0.90[EUR][1000 genomes]
rs34378400	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35621842	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs4793854	0.84[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4793889	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55859232	0.92[EUR][1000 genomes]
rs56038617	0.92[EUR][1000 genomes]
rs56115209	0.86[EUR][1000 genomes]
rs56128659	0.90[EUR][1000 genomes]
rs62065846	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62066689	0.94[EUR][1000 genomes]
rs62066693	0.90[EUR][1000 genomes]
rs6504281	0.88[EUR][1000 genomes]
rs6504340	0.84[EUR][1000 genomes]
rs7207109	0.88[EUR][1000 genomes]
rs7207171	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7222242	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7225995	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8064626	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8071207	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8072250	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8073963	0.85[EUR][1000 genomes]
rs8074125	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs8079617	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs9904760	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9905940	0.84[EUR][1000 genomes]
rs9906950	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9989493	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8066613	HOXB2	cis	uninvolved skin	skin_eQTL
rs8066613	HOXB2	cis	Whole Blood	GTEx
rs8066613	HOXB2	cis	Adipose Subcutaneous	GTEx
rs8066613	HOXB-AS1	cis	Whole Blood	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46574600-46588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:46580200-46584600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr17:46580800-46584000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr17:46582000-46584200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr17:46582200-46584000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:46582400-46584400	Enhancers	HMEC	breast
7	chr17:46582400-46584600	Enhancers	GM12878-XiMat	blood
8	chr17:46582600-46584200	Enhancers	NH-A	brain
9	chr17:46582600-46584600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:46582600-46585000	Enhancers	HSMM	muscle
11	chr17:46582800-46583800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:46582800-46584000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:46582800-46584000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:46582800-46584400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:46582800-46584400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr17:46582800-46584600	Enhancers	K562	blood
17	chr17:46583000-46583600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:46583000-46583600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr17:46583000-46583600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr17:46583000-46583600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:46583000-46583600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:46583000-46583600	Enhancers	NHEK	skin
23	chr17:46583000-46583800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:46583000-46584000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr17:46583000-46584000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:46583000-46584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr17:46583000-46584000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:46583000-46584000	Enhancers	Fetal Stomach	stomach
29	chr17:46583000-46584200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:46583000-46584200	Enhancers	NHDF-Ad	bronchial
31	chr17:46583000-46584400	Enhancers	HSMMtube	muscle
32	chr17:46583200-46583600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr17:46583200-46583600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr17:46583200-46583600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr17:46583200-46583600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:46583200-46583600	Enhancers	Hela-S3	cervix
37	chr17:46583200-46583600	Enhancers	Osteobl	bone
38	chr17:46583200-46583800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr17:46583200-46583800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr17:46583200-46583800	Enhancers	Colon Smooth Muscle	Colon
41	chr17:46583200-46583800	Flanking Active TSS	A549	lung
42	chr17:46583200-46583800	Enhancers	HUVEC	blood vessel
43	chr17:46583200-46583800	Enhancers	NHLF	lung
44	chr17:46583200-46584000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:46583200-46584000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:46583200-46584200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:46583200-46585000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:46583400-46583600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr17:46583400-46583600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr17:46583400-46583600	Enhancers	Duodenum Smooth Muscle	Duodenum

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