Variant report

Variant	rs4442161
Chromosome Location	chr8:20238118-20238119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20237063..20238741-chr8:20241384..20243460,2	MCF-7	breast:
2	chr8:20088954..20089900-chr8:20237904..20238487,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1038465	0.81[AMR][1000 genomes]
rs10503678	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11204110	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11204111	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12541135	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543131	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543855	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544052	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544080	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544394	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12547804	0.90[EUR][1000 genomes]
rs12549080	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12550451	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12679658	0.81[AMR][1000 genomes]
rs12681197	0.88[EUR][1000 genomes]
rs12681832	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249689	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13276179	0.87[AFR][1000 genomes]
rs13278066	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1872346	0.91[EUR][1000 genomes]
rs2062347	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2062348	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2410641	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2410643	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34368954	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34393111	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34738114	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35102761	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35267049	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35851624	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4269558	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4270981	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4376510	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4397421	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4397422	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4493920	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4921704	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4921705	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4921706	0.89[EUR][1000 genomes]
rs4922163	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922164	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922167	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922168	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922169	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922170	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922171	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922172	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4922174	0.91[ASN][1000 genomes]
rs4922176	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57421611	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6586911	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66866121	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs900954	0.89[EUR][1000 genomes]
rs900955	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9650601	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4442161	CNOT7	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20232400-20242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:20233200-20239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:20233400-20238400	Enhancers	HSMM	muscle
4	chr8:20234200-20239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:20234200-20239400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:20234800-20239400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:20235400-20238600	Enhancers	HSMMtube	muscle
8	chr8:20235800-20238200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:20236600-20245600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:20236800-20238200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:20236800-20239000	Weak transcription	HMEC	breast
12	chr8:20236800-20239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:20236800-20239400	Weak transcription	NH-A	brain
14	chr8:20236800-20239800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:20237000-20239000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:20237000-20239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:20237000-20240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:20237200-20238400	Enhancers	NHDF-Ad	bronchial
19	chr8:20237400-20238800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:20238000-20239600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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