Variant report

Variant	rs73573845
Chromosome Location	chr16:80209055-80209056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80208061..80210016-chr16:80210525..80213135,2	MCF-7	breast:
2	chr16:80208686..80211033-chr16:80212271..80215132,2	MCF-7	breast:
3	chr16:80197749..80200244-chr16:80208676..80210441,2	K562	blood:

Variant related genes	Relation type
ENSG00000261376	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12598278	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16952569	0.80[ASN][1000 genomes]
rs16952593	0.91[ASN][1000 genomes]
rs16952595	0.89[ASN][1000 genomes]
rs16952596	0.89[ASN][1000 genomes]
rs16952602	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16952610	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16952612	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1871208	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1904189	0.81[AMR][1000 genomes]
rs4889113	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4889114	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4889117	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4889118	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61540470	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6564742	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6564743	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74028037	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs74028038	0.89[ASN][1000 genomes]
rs7499082	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8044077	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs8045802	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs8060581	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9934115	0.83[AFR][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	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055228	chr16:80207546-80378842	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1064093	chr16:80208443-80333301	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv542985	chr16:80208443-80333301	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73573845	MAF	cis	hippocampus	BrainEAC
rs73573845	CENPN,C16orf61	cis	hippocampus	BrainEAC

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80207400-80210600	Enhancers	NHDF-Ad	bronchial
2	chr16:80207600-80210000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:80207600-80210600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:80207600-80212200	Enhancers	Osteobl	bone
5	chr16:80207800-80210000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:80207800-80210000	Enhancers	HSMM	muscle
7	chr16:80207800-80210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:80207800-80210200	Enhancers	HUVEC	blood vessel
9	chr16:80207800-80210200	Enhancers	NH-A	brain
10	chr16:80207800-80210400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:80207800-80210400	Enhancers	HMEC	breast
12	chr16:80207800-80210400	Enhancers	HSMMtube	muscle
13	chr16:80207800-80210400	Enhancers	NHEK	skin
14	chr16:80207800-80210800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:80207800-80212200	Enhancers	A549	lung
16	chr16:80208000-80209200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:80208000-80209600	Enhancers	Hela-S3	cervix
18	chr16:80208000-80210200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:80208400-80210400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:80208400-80210800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr16:80208800-80211400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr16:80209000-80210400	Enhancers	NHLF	lung

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