Variant report

Variant	rs73533523
Chromosome Location	chr8:10711714-10711715
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10694766..10696620-chr8:10707984..10711858,3	K562	blood:
2	chr8:10709949..10712901-chr8:10721572..10724488,2	K562	blood:
3	chr8:10711587..10713736-chr8:10731150..10732656,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11774457	0.89[ASN][1000 genomes]
rs11776965	0.94[ASN][1000 genomes]
rs11779094	0.89[ASN][1000 genomes]
rs11779336	0.89[ASN][1000 genomes]
rs11782490	0.89[ASN][1000 genomes]
rs11787390	0.98[EUR][1000 genomes]
rs12545398	0.85[EUR][1000 genomes]
rs13265197	0.89[ASN][1000 genomes]
rs13269447	0.89[ASN][1000 genomes]
rs17152542	0.89[ASN][1000 genomes]
rs17152623	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721760	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28544530	0.89[ASN][1000 genomes]
rs28675255	0.89[ASN][1000 genomes]
rs28706358	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2898245	0.89[ASN][1000 genomes]
rs3808604	0.88[ASN][1000 genomes]
rs4840518	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4841447	0.89[ASN][1000 genomes]
rs4841448	0.89[ASN][1000 genomes]
rs4841449	0.89[ASN][1000 genomes]
rs4841453	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4841455	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57689233	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57868806	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012879	0.84[ASN][1000 genomes]
rs73531553	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73531554	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73533521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813875	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10708600-10712200	Weak transcription	NHEK	skin
2	chr8:10708600-10712800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:10708600-10713200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:10708600-10715400	Weak transcription	Right Atrium	heart
5	chr8:10708800-10712200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:10708800-10712200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:10708800-10712800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:10708800-10712800	Weak transcription	HMEC	breast
9	chr8:10709400-10712200	Weak transcription	Brain Anterior Caudate	brain
10	chr8:10709600-10720400	Weak transcription	Pancreas	Pancrea
11	chr8:10710200-10718200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:10710600-10711800	Bivalent Enhancer	Fetal Brain Female	brain
13	chr8:10711600-10712200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:10711600-10713600	Enhancers	Fetal Brain Male	brain
15	chr8:10711600-10714800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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