Variant report

Variant	rs60841208
Chromosome Location	chr8:110660266-110660267
allele	A/T
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	GATA2	chr8:110659257-110660320	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr8:110659716-110660352	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr8:110659799-110660342	H1-neurons	neurons:	n/a	n/a
4	MXI1	chr8:110659495-110660437	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110654758..110657420-chr8:110658925..110660931,2	K562	blood:
2	chr8:110356323..110358473-chr8:110658586..110660962,2	K562	blood:

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000147642	Chromatin interaction
ENSG00000248050	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10086058	1.00[EUR][1000 genomes]
rs10091536	1.00[EUR][1000 genomes]
rs10092211	1.00[ASN][1000 genomes]
rs10097751	1.00[EUR][1000 genomes]
rs10098728	1.00[ASN][1000 genomes]
rs10101288	1.00[EUR][1000 genomes]
rs10106169	1.00[ASN][1000 genomes]
rs10106568	1.00[ASN][1000 genomes]
rs10106809	1.00[ASN][1000 genomes]
rs11988264	1.00[ASN][1000 genomes]
rs16879862	1.00[ASN][1000 genomes]
rs16879869	1.00[ASN][1000 genomes]
rs16879889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879903	1.00[ASN][1000 genomes]
rs16879906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28404625	0.97[ASN][1000 genomes]
rs28423669	1.00[EUR][1000 genomes]
rs28465493	0.97[ASN][1000 genomes]
rs28571606	1.00[EUR][1000 genomes]
rs28583803	1.00[EUR][1000 genomes]
rs28593097	1.00[EUR][1000 genomes]
rs28610171	1.00[EUR][1000 genomes]
rs28623195	1.00[EUR][1000 genomes]
rs28636990	1.00[ASN][1000 genomes]
rs28726128	1.00[ASN][1000 genomes]
rs4313130	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4506181	1.00[ASN][1000 genomes]
rs56384256	1.00[ASN][1000 genomes]
rs56838167	0.81[ASN][1000 genomes]
rs57167766	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57285880	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57962861	1.00[EUR][1000 genomes]
rs58404081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58910462	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59161508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59892422	1.00[ASN][1000 genomes]
rs59981669	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60387056	1.00[EUR][1000 genomes]
rs61437630	1.00[ASN][1000 genomes]
rs61702273	1.00[ASN][1000 genomes]
rs6469277	0.81[ASN][1000 genomes]
rs6987830	1.00[ASN][1000 genomes]
rs7011702	0.86[ASN][1000 genomes]
rs7017357	1.00[ASN][1000 genomes]
rs73319188	1.00[EUR][1000 genomes]
rs73319190	1.00[EUR][1000 genomes]
rs73321006	1.00[ASN][1000 genomes]
rs73321029	1.00[ASN][1000 genomes]
rs7817360	1.00[ASN][1000 genomes]
rs7817773	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824472	1.00[ASN][1000 genomes]
rs7825511	1.00[EUR][1000 genomes]
rs7825600	1.00[EUR][1000 genomes]
rs7825601	1.00[EUR][1000 genomes]
rs7825942	1.00[ASN][1000 genomes]
rs7841022	1.00[ASN][1000 genomes]
rs7842227	1.00[ASN][1000 genomes]
rs7843208	0.81[ASN][1000 genomes]
rs9297431	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
3	chr8:110658200-110660400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:110658400-110661200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:110658600-110661200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:110659000-110661200	Active TSS	Brain Anterior Caudate	brain
7	chr8:110659600-110660400	Enhancers	Colon Smooth Muscle	Colon
8	chr8:110659600-110661200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:110659600-110661200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:110660000-110661000	Enhancers	Brain Germinal Matrix	brain
11	chr8:110660200-110660800	Active TSS	Fetal Brain Male	brain
12	chr8:110660200-110661200	Active TSS	Fetal Brain Female	brain
13	chr8:110660200-110661800	Active TSS	Stomach Smooth Muscle	stomach

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