Variant report

Variant	rs4269558
Chromosome Location	chr8:20233887-20233888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:20088116..20090278-chr8:20233803..20235473,2	K562	blood:
2	chr8:20042078..20043029-chr8:20233107..20233929,2	K562	blood:
3	chr8:20080921..20082306-chr8:20233354..20234450,5	K562	blood:
4	chr8:19991226..19991903-chr8:20233790..20234437,2	MCF-7	breast:
5	chr8:20081034..20081913-chr8:20233476..20234485,8	MCF-7	breast:
6	chr8:20078974..20080125-chr8:20233790..20234379,3	MCF-7	breast:
7	chr8:20088600..20090081-chr8:20233342..20234519,28	MCF-7	breast:
8	chr8:20088909..20090051-chr8:20233327..20234373,18	K562	blood:
9	chr8:20090787..20091644-chr8:20233441..20234008,2	K562	blood:
10	chr8:19786079..19786796-chr8:20233434..20233934,2	K562	blood:
11	chr8:20080349..20082328-chr8:20233127..20234370,21	MCF-7	breast:
12	chr8:18769400..18769933-chr8:20233444..20234301,2	K562	blood:
13	chr8:20088088..20089926-chr8:20233248..20234294,12	MCF-7	breast:

No data

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1038465	0.84[AMR][1000 genomes]
rs1038466	0.81[EUR][1000 genomes]
rs10503678	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11204110	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11204111	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12541135	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12541289	0.82[AMR][1000 genomes]
rs12542760	0.81[AMR][1000 genomes]
rs12543131	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12543855	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544052	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544080	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544394	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544659	0.82[AMR][1000 genomes]
rs12547804	0.93[EUR][1000 genomes]
rs12549080	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12550451	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12679658	0.83[AMR][1000 genomes]
rs12681197	0.91[EUR][1000 genomes]
rs12681832	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13249689	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13276179	0.86[AFR][1000 genomes]
rs13278066	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1872346	0.93[EUR][1000 genomes]
rs2062347	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2062348	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2410641	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2410643	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34324466	0.81[AMR][1000 genomes]
rs34368954	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34393111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34738114	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35102761	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35267049	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35851624	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35946940	0.81[AMR][1000 genomes]
rs3892686	0.81[EUR][1000 genomes]
rs4270981	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4376510	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4397421	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4397422	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4442161	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4493920	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4921704	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4921705	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4921706	0.92[EUR][1000 genomes]
rs4922163	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4922164	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4922167	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4922168	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4922169	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4922170	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4922171	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4922172	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4922174	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4922176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57421611	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6586911	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66866121	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs900954	0.92[EUR][1000 genomes]
rs900955	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9650601	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20227200-20234000	Weak transcription	HSMMtube	muscle
2	chr8:20230800-20234200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:20231400-20234800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:20232000-20234800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:20232000-20235600	Weak transcription	HMEC	breast
6	chr8:20232400-20234000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:20232400-20236000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:20232400-20236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:20232400-20242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:20232600-20234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:20232600-20234000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:20232800-20234800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:20233000-20234200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:20233000-20234200	Enhancers	Adipose Nuclei	Adipose
15	chr8:20233000-20234800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:20233000-20236600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:20233200-20234200	Enhancers	Brain Anterior Caudate	brain
18	chr8:20233200-20234800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:20233200-20234800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:20233200-20234800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:20233200-20235000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:20233200-20239000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:20233400-20234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:20233400-20234200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:20233400-20235000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr8:20233400-20238400	Enhancers	HSMM	muscle
27	chr8:20233600-20234000	Weak transcription	H1 Cell Line	embryonic stem cell

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