Variant report

Variant	rs4889238
Chromosome Location	chr16:81151122-81151123
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81144641..81147078-chr16:81149251..81151936,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12917718	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1463286	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084960	1.00[AMR][1000 genomes]
rs2084961	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2317088	1.00[AMR][1000 genomes]
rs2549851	1.00[AMR][1000 genomes]
rs2602422	1.00[AMR][1000 genomes]
rs2602445	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911153	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911154	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35109118	1.00[AMR][1000 genomes]
rs4888119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564817	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564826	0.83[AFR][1000 genomes]
rs804884	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804891	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935939	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935940	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1067144	chr16:81129298-81181641	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1059006	chr16:81139073-81155094	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1063460	chr16:81139073-81157385	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv520035	chr16:81145675-81157521	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81141200-81156600	Weak transcription	Brain Angular Gyrus	brain
3	chr16:81141200-81169600	Weak transcription	Brain Anterior Caudate	brain
4	chr16:81141400-81153800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:81141400-81169600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:81141400-81169600	Weak transcription	Brain Hippocampus Middle	brain
7	chr16:81147800-81156800	Weak transcription	Adipose Nuclei	Adipose
8	chr16:81150800-81151200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:81150800-81151400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:81151000-81151400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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