Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr1:75595125-75598694	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr1:75594519-75601637	NT2-D1	testis:	n/a	n/a
3	POLR2A	chr1:75596570-75599860	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr1:75598408-75598696	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr1:75596503-75602546	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
LHX8	TF binding region
ENSG00000224149	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12129029	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12129158	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12129193	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12133614	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12138223	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12142460	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12723906	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12726443	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12732329	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12741928	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12751207	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1526502	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1526511	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1852348	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1852349	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35453094	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6681258	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6695423	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71500673	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7524020	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75596000-75600600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
2	chr1:75596400-75600200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:75597400-75599400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr1:75597800-75598800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:75598000-75598600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr1:75598000-75599000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:75598200-75598600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:75598200-75599200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr1:75598400-75598600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr1:75598400-75598600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr1:75598400-75598600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr1:75598400-75598800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell

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