Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:48409982-48410203	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr13:48409905-48410329	SK-N-SH	brain:	n/a	n/a
3	TAF1	chr13:48410034-48410231	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000228573	TF binding region

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11838821	1.00[EUR][1000 genomes]
rs11840146	1.00[EUR][1000 genomes]
rs11840694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11842190	1.00[EUR][1000 genomes]
rs12430608	1.00[EUR][1000 genomes]
rs12585580	1.00[EUR][1000 genomes]
rs12585890	1.00[EUR][1000 genomes]
rs35535367	1.00[EUR][1000 genomes]
rs57530384	1.00[EUR][1000 genomes]
rs57916684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59776562	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59845585	1.00[EUR][1000 genomes]
rs59991172	1.00[EUR][1000 genomes]
rs60398625	1.00[EUR][1000 genomes]
rs60718136	1.00[EUR][1000 genomes]
rs73477042	1.00[EUR][1000 genomes]
rs73477165	1.00[AMR][1000 genomes]
rs73483220	1.00[EUR][1000 genomes]
rs73483293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73485326	1.00[EUR][1000 genomes]
rs73485330	1.00[EUR][1000 genomes]
rs73485345	1.00[EUR][1000 genomes]
rs73485349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73485356	1.00[EUR][1000 genomes]
rs73487241	1.00[EUR][1000 genomes]
rs73487264	1.00[EUR][1000 genomes]
rs73487269	1.00[EUR][1000 genomes]
rs73489207	1.00[EUR][1000 genomes]
rs73489232	1.00[EUR][1000 genomes]
rs73493331	1.00[EUR][1000 genomes]
rs73493345	1.00[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	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv561589	chr13:48251736-48420218	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr13:48391400-48411200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:48404400-48412000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:48406200-48411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:48407800-48410600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:48409600-48413200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:48409800-48410200	Enhancers	GM12878-XiMat	blood
7	chr13:48409800-48410400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:48409800-48410400	Active TSS	Osteobl	bone
9	chr13:48410000-48410400	Enhancers	Placenta	Placenta
10	chr13:48410000-48410400	Active TSS	Hela-S3	cervix
11	chr13:48410000-48411200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:48410000-48411400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:48410000-48411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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