Variant report

Variant	rs59544945
Chromosome Location	chr1:158392214-158392215
allele	C/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	TCF12	chr1:158391983-158392426	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr1:158391991-158392534	MCF-7	breast:	n/a	chr1:158392495-158392502 chr1:158392376-158392385
3	SP1	chr1:158392102-158392357	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr1:158391949-158392390	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF12	chr1:158392074-158392326	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr1:158391958-158392422	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
OR10K2	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12240099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1546063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1578764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59118976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61369167	1.00[AFR][1000 genomes]
rs6662167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6670334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6691241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73019708	1.00[AFR][1000 genomes]
rs73019718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73019723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73019727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73019729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73019731	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73019739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73019740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021797	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73021798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025814	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7540724	1.00[AFR][1000 genomes];1.00[AMR][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	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv998569	chr1:158317392-158443389	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158391400-158393000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr1:158391400-158393000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:158391600-158392600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:158391600-158392600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:158391600-158393600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:158391800-158393000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:158392000-158392400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:158392200-158392400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:158392200-158392600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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