Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:122293984-122294204	K562	blood:	n/a	n/a
2	CREB1	chr12:122293943-122294291	K562	blood:	n/a	n/a
3	EP300	chr12:122293832-122294329	A549	lung:	n/a	n/a
4	SPI1	chr12:122293823-122294153	HL-60	blood:	n/a	n/a
5	RCOR1	chr12:122293981-122294198	K562	blood:	n/a	n/a
6	MAFK	chr12:122293926-122294237	K562	blood:	n/a	n/a
7	EP300	chr12:122293770-122294302	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000256811	TF binding region

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10840623	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11043214	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11613865	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12310752	0.81[AMR][1000 genomes]
rs1449562	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2596140	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2620334	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2620339	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2707070	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707075	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2928283	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35384269	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4760102	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4760103	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34943778	HPD	cis	Heart Left Ventricle	GTEx
rs34943778	HPD	cis	Muscle Skeletal	GTEx
rs34943778	RP11-7M8.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
3	chr12:122291200-122295400	Weak transcription	Pancreas	Pancrea
4	chr12:122292000-122296400	Weak transcription	Right Atrium	heart
5	chr12:122292200-122296400	Weak transcription	Colonic Mucosa	Colon
6	chr12:122292600-122296000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:122292600-122296000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:122292800-122294400	Weak transcription	HepG2	liver
9	chr12:122292800-122295400	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:122292800-122296400	Weak transcription	Right Ventricle	heart
11	chr12:122292800-122296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:122293800-122294200	Enhancers	Primary B cells from cord blood	blood
13	chr12:122294000-122294200	Enhancers	GM12878-XiMat	blood
14	chr12:122294000-122294400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:122294000-122294400	Transcr. at gene 5' and 3'	Liver	Liver
16	chr12:122294000-122294400	Enhancers	Spleen	Spleen
17	chr12:122294000-122294600	Enhancers	Fetal Thymus	thymus
18	chr12:122294000-122295600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:122294000-122296000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:122294000-122298600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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