Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr20:11286136-11286452	H1-hESC	embryonic stem cell:	n/a	chr20:11286214-11286224
2	E2F6	chr20:11286095-11286711	H1-hESC	embryonic stem cell:	n/a	n/a
3	RUNX3	chr20:11286031-11286345	GM12878	blood:	n/a	n/a
4	TCF12	chr20:11286108-11286367	H1-hESC	embryonic stem cell:	n/a	chr20:11286214-11286224
5	ZNF143	chr20:11286183-11286378	GM12878	blood:	n/a	n/a
6	IKZF1	chr20:11285997-11286415	GM12878	blood:	n/a	n/a
7	EBF1	chr20:11285484-11286387	GM12878	blood:	n/a	n/a
8	GTF2F1	chr20:11286156-11286352	H1-hESC	embryonic stem cell:	n/a	n/a
9	RUNX3	chr20:11286018-11286332	GM12878	blood:	n/a	n/a
10	MAX	chr20:11286032-11286442	H1-hESC	embryonic stem cell:	n/a	chr20:11286351-11286361
11	MAX	chr20:11286119-11286460	H1-hESC	embryonic stem cell:	n/a	chr20:11286351-11286361
12	ZNF143	chr20:11286085-11286593	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000230990	TF binding region

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11696977	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11698064	0.92[EUR][1000 genomes]
rs13038948	0.94[EUR][1000 genomes]
rs13043539	0.87[EUR][1000 genomes]
rs1535072	0.87[EUR][1000 genomes]
rs17800232	0.97[EUR][1000 genomes]
rs1997876	0.99[EUR][1000 genomes]
rs1997877	0.99[EUR][1000 genomes]
rs2327399	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28479511	0.86[EUR][1000 genomes]
rs6033092	0.88[EUR][1000 genomes]
rs6033095	0.99[EUR][1000 genomes]
rs6040515	0.99[EUR][1000 genomes]
rs6074279	0.97[EUR][1000 genomes]
rs6074281	0.97[EUR][1000 genomes]
rs6074283	0.94[EUR][1000 genomes]
rs6074287	0.86[EUR][1000 genomes]
rs6078118	0.99[EUR][1000 genomes]
rs6078132	0.96[EUR][1000 genomes]
rs6078136	0.97[EUR][1000 genomes]
rs6078138	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6078141	0.86[EUR][1000 genomes]
rs6078143	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6104738	0.92[EUR][1000 genomes]
rs6104739	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6108906	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs722568	0.82[CEU][hapmap]
rs988788	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv458869	chr20:11271614-11306751	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv585417	chr20:11271614-11306751	Weak transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 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	chr20:11285400-11286400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr20:11285400-11286600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:11285400-11286800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:11285400-11287000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:11285400-11287000	Enhancers	NHEK	skin
6	chr20:11285400-11287200	Enhancers	HMEC	breast
7	chr20:11285800-11286400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr20:11285800-11286400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:11285800-11286600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr20:11286000-11286400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr20:11286000-11286400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:11286000-11286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:11286000-11286800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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