Variant report

Variant	rs28493867
Chromosome Location	chr16:81444268-81444269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81439334..81441774-chr16:81443135..81446124,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs13330047	1.00[AMR][1000 genomes]
rs13330236	1.00[AMR][1000 genomes]
rs13330460	1.00[AMR][1000 genomes]
rs13330968	1.00[AMR][1000 genomes]
rs13331534	1.00[AMR][1000 genomes]
rs13331648	1.00[AMR][1000 genomes]
rs13331946	1.00[AMR][1000 genomes]
rs13333096	1.00[AMR][1000 genomes]
rs13334454	1.00[AMR][1000 genomes]
rs13335545	1.00[AMR][1000 genomes]
rs13336715	1.00[AMR][1000 genomes]
rs13336792	1.00[AMR][1000 genomes]
rs13338110	1.00[AMR][1000 genomes]
rs13338579	1.00[AMR][1000 genomes]
rs16955449	1.00[AMR][1000 genomes]
rs28412656	1.00[AMR][1000 genomes]
rs28418533	1.00[AMR][1000 genomes]
rs28436066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28438989	1.00[AMR][1000 genomes]
rs28572501	1.00[AMR][1000 genomes]
rs28594283	1.00[AMR][1000 genomes]
rs28649617	1.00[AMR][1000 genomes]
rs28669745	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28711634	1.00[AMR][1000 genomes]
rs28763301	1.00[AMR][1000 genomes]
rs2927303	1.00[AMR][1000 genomes]
rs2927306	1.00[AMR][1000 genomes]
rs2927309	1.00[AMR][1000 genomes]
rs2927310	1.00[AMR][1000 genomes]
rs2966089	1.00[AMR][1000 genomes]
rs2966096	1.00[AMR][1000 genomes]
rs56850891	1.00[AMR][1000 genomes]
rs73594494	1.00[AMR][1000 genomes]
rs73594496	1.00[AMR][1000 genomes]
rs73596412	1.00[AMR][1000 genomes]
rs73596428	1.00[AMR][1000 genomes]
rs73596440	1.00[AMR][1000 genomes]
rs9921409	1.00[AMR][1000 genomes]
rs9923475	1.00[AMR][1000 genomes]
rs9925710	1.00[AMR][1000 genomes]
rs9925814	1.00[AMR][1000 genomes]
rs9927474	1.00[AMR][1000 genomes]
rs9928818	1.00[AMR][1000 genomes]
rs9929135	1.00[AMR][1000 genomes]
rs9931473	1.00[AMR][1000 genomes]
rs9932717	1.00[AMR][1000 genomes]
rs9933163	1.00[AMR][1000 genomes]
rs9934014	1.00[AMR][1000 genomes]
rs9934020	1.00[AMR][1000 genomes]
rs9934846	1.00[AMR][1000 genomes]
rs9934867	1.00[AMR][1000 genomes]
rs9935244	1.00[AMR][1000 genomes]
rs9935348	1.00[AMR][1000 genomes]
rs9935375	1.00[AMR][1000 genomes]
rs9935617	1.00[AMR][1000 genomes]
rs9935646	1.00[AMR][1000 genomes]
rs9936412	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937004	1.00[AMR][1000 genomes]
rs9937189	1.00[AMR][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	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
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81437600-81444400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:81437800-81444400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr16:81437800-81444400	Weak transcription	Fetal Thymus	thymus
4	chr16:81437800-81447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:81438000-81444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81438000-81449600	Weak transcription	Right Atrium	heart
7	chr16:81439800-81444400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:81439800-81444600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:81441000-81444400	Weak transcription	NHLF	lung
10	chr16:81441200-81444400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:81441200-81444600	Enhancers	A549	lung
12	chr16:81441400-81444600	Weak transcription	NH-A	brain
13	chr16:81441400-81448000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:81442800-81444400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr16:81443000-81444400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:81443200-81444400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:81443800-81444600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:81444200-81444600	Enhancers	Stomach Smooth Muscle	stomach
19	chr16:81444200-81444800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:81444200-81444800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr16:81444200-81445000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:81444200-81445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr16:81444200-81445200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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