Variant report

Variant	rs28682553
Chromosome Location	chr16:79879154-79879155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79877777..79879938-chr16:79948611..79950631,2	K562	blood:
2	chr16:79877945..79879794-chr16:79880017..79882349,2	MCF-7	breast:
3	chr16:79859219..79861466-chr16:79877889..79879559,2	K562	blood:
4	chr16:79871932..79877574-chr16:79878123..79882364,6	K562	blood:
5	chr16:79877269..79880011-chr16:79882461..79884349,2	K562	blood:
6	chr16:79879070..79882404-chr16:79882481..79885760,4	K562	blood:

Variant related genes	Relation type
ENSG00000261082	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11639767	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11641047	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11644568	0.82[AMR][1000 genomes]
rs11644893	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11646016	1.00[EUR][1000 genomes]
rs11649677	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11649685	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16951485	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16951509	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16951514	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28401424	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28550306	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28566844	0.86[ASN][1000 genomes]
rs28678066	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28694329	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4307960	0.85[ASN][1000 genomes]
rs4372703	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4410095	0.85[EUR][1000 genomes]
rs4465617	0.83[AMR][1000 genomes]
rs7184396	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7206616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74037860	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74037863	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74037864	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921272	0.86[ASN][1000 genomes]
rs9921449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9925226	0.85[ASN][1000 genomes]
rs9933396	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1059511	chr16:79847882-79925436	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv542984	chr16:79847882-79925436	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573290	chr16:79853267-79939504	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79874000-79880600	Weak transcription	Right Atrium	heart
2	chr16:79876000-79882400	Weak transcription	Fetal Lung	lung
3	chr16:79876400-79880200	Flanking Active TSS	K562	blood
4	chr16:79876800-79879200	Enhancers	Fetal Stomach	stomach
5	chr16:79878000-79881200	Weak transcription	Pancreas	Pancrea
6	chr16:79878200-79880800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:79878200-79881000	Enhancers	Primary hematopoietic stem cells	blood
8	chr16:79878400-79879400	Enhancers	Esophagus	oesophagus
9	chr16:79878400-79880000	Flanking Active TSS	GM12878-XiMat	blood
10	chr16:79878400-79880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr16:79878400-79880200	Enhancers	Dnd41	blood
12	chr16:79878600-79879400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:79878600-79879800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:79878800-79879600	Flanking Active TSS	Thymus	Thymus
15	chr16:79878800-79879800	Flanking Active TSS	Fetal Thymus	thymus
16	chr16:79879000-79880000	Enhancers	Primary T cells from cord blood	blood

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