Variant report

Variant	rs57094219
Chromosome Location	chr8:120731144-120731145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120730083..120732961-chr8:120733273..120735732,2	K562	blood:
2	chr8:120728056..120731650-chr8:120733855..120737131,3	K562	blood:

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	0.94[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	0.94[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]
rs57423283	0.88[EUR][1000 genomes]
rs60576513	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60762762	1.00[EUR][1000 genomes]
rs61585800	0.94[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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996373	0.91[EUR][1000 genomes]
rs7016177	0.81[EUR][1000 genomes]
rs73702609	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73702610	0.81[EUR][1000 genomes]
rs73702612	0.91[EUR][1000 genomes]
rs73713100	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73713102	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827756	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7831321	0.81[EUR][1000 genomes]
rs7833407	0.91[EUR][1000 genomes]
rs7835482	0.94[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
rs57094219	TAF2	Cis_1M	lymphoblastoid	RTeQTL
rs57094219	TAF2	cis	lung	GTEx
rs57094219	TAF2	cis	Thyroid	GTEx

Chromatin state (count:9 , 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	chr8:120730400-120743200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:120730600-120731600	Weak transcription	Adipose Nuclei	Adipose
6	chr8:120730600-120743800	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:120730600-120750800	Weak transcription	HSMMtube	muscle
8	chr8:120730800-120744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:120730800-120753600	Weak transcription	Rectal Smooth Muscle	rectum

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