Variant report

Variant	rs4889117
Chromosome Location	chr16:80224309-80224310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10514487	0.81[EUR][1000 genomes]
rs12102352	0.82[ASN][1000 genomes]
rs12102687	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12103210	0.81[EUR][1000 genomes]
rs12598278	0.83[EUR][1000 genomes]
rs16952553	0.80[EUR][1000 genomes]
rs16952569	0.85[ASN][1000 genomes]
rs16952593	0.96[ASN][1000 genomes]
rs16952595	0.94[ASN][1000 genomes]
rs16952596	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16952602	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16952610	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16952612	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952615	0.83[EUR][1000 genomes]
rs17734628	0.80[EUR][1000 genomes]
rs17794789	0.80[EUR][1000 genomes]
rs17794813	0.80[EUR][1000 genomes]
rs17796486	0.83[EUR][1000 genomes]
rs1862698	0.82[ASN][1000 genomes]
rs1871208	0.83[EUR][1000 genomes]
rs1904189	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4889113	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4889114	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4889118	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61540470	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564742	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564743	0.83[AMR][1000 genomes]
rs7192068	0.80[EUR][1000 genomes]
rs73573845	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs74028037	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs74028038	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs74041375	0.83[EUR][1000 genomes]
rs7499082	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8044077	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8045802	0.83[EUR][1000 genomes]
rs8060581	0.83[EUR][1000 genomes]
rs9934115	0.92[EUR][1000 genomes]
rs9934786	0.81[ASN][1000 genomes]
rs9941114	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1059997	chr16:80209367-80247050	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80210400-80231400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:80223400-80224400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr16:80223400-80232200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:80223600-80225200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:80224000-80224400	Enhancers	Osteobl	bone
6	chr16:80224200-80231400	Weak transcription	A549	lung

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