Variant report

Variant	rs56137757
Chromosome Location	chr8:20204414-20204415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:20204377-20204611	H1-hESC	embryonic stem cell:	n/a	chr8:20204491-20204509 chr8:20204490-20204510 chr8:20204490-20204510 chr8:20204500-20204508 chr8:20204407-20204420 chr8:20204490-20204510 chr8:20204496-20204510
2	REST	chr8:20204329-20204590	H1-hESC	embryonic stem cell:	n/a	chr8:20204491-20204509 chr8:20204490-20204510 chr8:20204490-20204510 chr8:20204500-20204508 chr8:20204407-20204420 chr8:20204490-20204510 chr8:20204496-20204510

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20026355..20028616-chr8:20204009..20206299,2	K562	blood:

Variant related genes	Relation type
ENSG00000253164	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1016646	0.93[AMR][1000 genomes]
rs10503679	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17092258	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17412582	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17412623	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17412734	0.93[AMR][1000 genomes]
rs17412740	0.93[AMR][1000 genomes]
rs17490756	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17490805	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17490847	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17490895	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17491153	0.93[AMR][1000 genomes]
rs2086886	0.93[AMR][1000 genomes]
rs35673104	0.93[AMR][1000 genomes]
rs4601325	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4921708	0.93[AMR][1000 genomes]
rs4921713	0.93[AMR][1000 genomes]
rs4922159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922160	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4922161	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4922175	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4922177	0.93[AMR][1000 genomes]
rs4922178	0.93[AMR][1000 genomes]
rs4922179	0.93[AMR][1000 genomes]
rs4922180	0.93[AMR][1000 genomes]
rs4922182	0.93[AMR][1000 genomes]
rs4922183	0.93[AMR][1000 genomes]
rs4922187	0.93[AMR][1000 genomes]
rs4922189	0.93[AMR][1000 genomes]
rs55638716	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55700547	0.93[AMR][1000 genomes]
rs55968150	0.93[AMR][1000 genomes]
rs56098307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56157706	0.93[AMR][1000 genomes]
rs56171374	0.93[AMR][1000 genomes]
rs6586910	0.93[AMR][1000 genomes]
rs7011182	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs985577	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs985578	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr8:20201200-20206400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:20202000-20205600	Weak transcription	Placenta	Placenta
3	chr8:20202800-20206200	Weak transcription	Fetal Heart	heart
4	chr8:20204000-20206800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:20204200-20204600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr8:20204400-20204600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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