Variant report

Variant	rs60576513
Chromosome Location	chr8:120727562-120727563
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	chr8:120727066-120727619	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
RN7SKP153	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10101391	0.89[EUR][1000 genomes]
rs10101983	0.87[EUR][1000 genomes]
rs10106425	0.89[EUR][1000 genomes]
rs10505373	0.89[EUR][1000 genomes]
rs11552092	0.86[EUR][1000 genomes]
rs1433949	0.95[EUR][1000 genomes]
rs16893014	0.95[EUR][1000 genomes]
rs16893117	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16893176	0.91[EUR][1000 genomes]
rs16893201	0.84[EUR][1000 genomes]
rs2164021	0.93[EUR][1000 genomes]
rs56116632	1.00[EUR][1000 genomes]
rs56168312	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56285268	1.00[EUR][1000 genomes]
rs56369293	1.00[EUR][1000 genomes]
rs56712359	1.00[EUR][1000 genomes]
rs57094219	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57423283	0.88[EUR][1000 genomes]
rs60762762	1.00[EUR][1000 genomes]
rs61585800	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469842	0.81[EUR][1000 genomes]
rs6469843	0.81[EUR][1000 genomes]
rs6469847	0.91[EUR][1000 genomes]
rs6469848	0.91[EUR][1000 genomes]
rs6987348	0.82[EUR][1000 genomes]
rs6989251	1.00[EUR][1000 genomes]
rs6994297	0.91[EUR][1000 genomes]
rs6995449	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996373	0.91[EUR][1000 genomes]
rs7016177	0.81[EUR][1000 genomes]
rs73702609	0.91[EUR][1000 genomes]
rs73702610	0.81[EUR][1000 genomes]
rs73702612	0.91[EUR][1000 genomes]
rs73713100	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73713102	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827756	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7831321	0.81[EUR][1000 genomes]
rs7833407	0.91[EUR][1000 genomes]
rs7835482	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839841	0.91[EUR][1000 genomes]
rs7843034	0.81[EUR][1000 genomes]
rs956748	0.98[EUR][1000 genomes]
rs956749	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs60576513	TAF2	cis	lung	GTEx
rs60576513	TAF2	cis	Thyroid	GTEx
rs60576513	TAF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120721600-120731400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:120722200-120741400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:120727200-120728200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:120727400-120728000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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