Variant report

Variant	rs7501529
Chromosome Location	chr17:46598139-46598140
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46590857..46593060-chr17:46597939..46599663,2	K562	blood:
2	chr17:46593476..46595143-chr17:46597692..46599844,2	MCF-7	breast:
3	chr17:46577717..46579696-chr17:46597150..46599532,2	MCF-7	breast:
4	chr17:46597156..46601458-chr17:46601809..46606314,7	MCF-7	breast:
5	chr17:46569196..46571892-chr17:46596978..46599661,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10514953	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853099	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10853100	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11079824	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11079825	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079828	0.83[CEU][hapmap]
rs11651168	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11652125	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652746	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11867735	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11869101	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12450225	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12603662	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1509638	0.90[AMR][1000 genomes]
rs1553748	0.89[JPT][hapmap]
rs1553754	0.88[CEU][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1553755	0.89[JPT][hapmap]
rs1812501	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1987164	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2036764	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2325948	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326013	0.82[EUR][1000 genomes]
rs4793564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59961340	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60154639	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60859312	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62065845	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62065847	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62066684	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504280	0.89[JPT][hapmap]
rs7214534	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72829818	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72829824	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077407	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs925284	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7501529	HOXB2	cis	Whole Blood	GTEx
rs7501529	HOXB2	Cis_1M	lymphoblastoid	RTeQTL
rs7501529	HOXB3	cis	Whole Blood	GTEx
rs7501529	HOXB-AS1	cis	Whole Blood	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46590800-46599600	Weak transcription	Right Atrium	heart
2	chr17:46591200-46599400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:46592000-46604000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:46592200-46599400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:46592400-46599400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:46593800-46599400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:46594200-46599400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:46595200-46599600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:46596800-46598200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:46596800-46599200	Enhancers	K562	blood
11	chr17:46597000-46598200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
12	chr17:46597000-46598200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:46597400-46598400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:46597400-46599400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr17:46597800-46598200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr17:46597800-46598200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr17:46597800-46598200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr17:46597800-46598200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr17:46597800-46598200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr17:46597800-46598400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:46597800-46598400	Enhancers	Fetal Kidney	kidney
22	chr17:46597800-46598400	Enhancers	HSMM	muscle
23	chr17:46597800-46598400	Enhancers	NHDF-Ad	bronchial
24	chr17:46597800-46598600	Flanking Active TSS	A549	lung
25	chr17:46597800-46598800	Enhancers	HSMMtube	muscle
26	chr17:46597800-46601200	Enhancers	NHLF	lung
27	chr17:46598000-46598200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr17:46598000-46598200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr17:46598000-46598200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr17:46598000-46598200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:46598000-46598400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr17:46598000-46598400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr17:46598000-46598400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:46598000-46598400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr17:46598000-46600200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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