Variant report

Variant	rs60154639
Chromosome Location	chr17:46575562-46575563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46574039..46576397-chr17:46577646..46580624,4	MCF-7	breast:
2	chr17:46553956..46556675-chr17:46573169..46576403,3	MCF-7	breast:
3	chr17:46569189..46572269-chr17:46574424..46577287,4	MCF-7	breast:
4	chr17:46575342..46577434-chr17:46588645..46590527,2	K562	blood:
5	chr17:46574929..46577618-chr17:46713950..46715500,2	K562	blood:
6	chr17:46574112..46575706-chr17:46580959..46582706,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206805	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10514953	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10853099	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10853100	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11079824	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11079825	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11079826	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11651168	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11652125	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11652746	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11867735	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11869101	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12450225	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12603662	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1509638	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1553754	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1812501	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1987164	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2036764	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2325948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793564	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59961340	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60859312	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62065845	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62065847	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62066684	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7214534	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72829818	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829824	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7501529	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8077407	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs925284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs60154639	HOXB3	cis	Whole Blood	GTEx
rs60154639	HOXB2	cis	Whole Blood	GTEx
rs60154639	HOXB2	Cis_1M	lymphoblastoid	RTeQTL
rs60154639	HOXB-AS1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46570400-46576400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:46571000-46577800	Weak transcription	Colon Smooth Muscle	Colon
3	chr17:46571800-46575800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr17:46572600-46575600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr17:46573200-46577200	Weak transcription	A549	lung
6	chr17:46573400-46576400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr17:46574000-46576600	Enhancers	Fetal Stomach	stomach
8	chr17:46574200-46575800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr17:46574200-46575800	Enhancers	NHLF	lung
10	chr17:46574200-46576200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:46574200-46576200	Enhancers	Fetal Kidney	kidney
12	chr17:46574200-46576400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr17:46574200-46576400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr17:46574200-46576800	Enhancers	NHEK	skin
15	chr17:46574200-46577800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:46574200-46578400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr17:46574200-46578600	Enhancers	HSMM	muscle
18	chr17:46574200-46579400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:46574400-46577000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:46574600-46588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:46574800-46576400	Enhancers	HSMMtube	muscle
22	chr17:46574800-46577400	Weak transcription	K562	blood
23	chr17:46574800-46582800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:46574800-46582800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:46574800-46582800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:46575000-46575800	Enhancers	Adipose Nuclei	Adipose
27	chr17:46575000-46575800	Bivalent Enhancer	Fetal Lung	lung
28	chr17:46575200-46575600	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr17:46575200-46575800	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr17:46575400-46575600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr17:46575400-46575800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr17:46575400-46576000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr17:46575400-46576000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr17:46575400-46576200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr17:46575400-46577200	Enhancers	Placenta	Placenta

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