Variant report

Variant	rs1038465
Chromosome Location	chr8:20233146-20233147
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	chr8:20042078..20043029-chr8:20233107..20233929,2	K562	blood:
2	chr8:20080349..20082328-chr8:20233127..20234370,21	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10503678	0.81[AMR][1000 genomes]
rs11204110	0.80[AMR][1000 genomes]
rs12541289	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12542760	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12543131	0.81[AMR][1000 genomes]
rs12543855	0.81[AMR][1000 genomes]
rs12544394	0.81[AMR][1000 genomes]
rs12544659	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12550005	0.81[ASN][1000 genomes]
rs12679658	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12681832	0.84[AMR][1000 genomes]
rs13248765	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13256064	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13276179	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13278066	0.81[AMR][1000 genomes]
rs13278974	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1484800	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2062347	0.80[AMR][1000 genomes]
rs2062348	0.81[AMR][1000 genomes]
rs2410643	0.80[AMR][1000 genomes]
rs34324466	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34368954	0.81[AMR][1000 genomes]
rs34393111	0.84[AMR][1000 genomes]
rs35102761	0.81[AMR][1000 genomes]
rs35267049	0.84[AMR][1000 genomes]
rs35851624	0.81[AMR][1000 genomes]
rs35946940	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4269558	0.84[AMR][1000 genomes]
rs4270981	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4397421	0.80[AMR][1000 genomes]
rs4397422	0.80[AMR][1000 genomes]
rs4442161	0.81[AMR][1000 genomes]
rs4451325	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4493920	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4922167	0.81[AMR][1000 genomes]
rs4922168	0.81[AMR][1000 genomes]
rs4922170	0.80[AMR][1000 genomes]
rs4922171	0.81[AMR][1000 genomes]
rs4922172	0.81[AMR][1000 genomes]
rs4922176	0.84[AMR][1000 genomes]
rs57307831	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57421611	0.81[AMR][1000 genomes]
rs58488103	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66866121	0.81[AMR][1000 genomes]
rs754455	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs900955	0.80[AMR][1000 genomes]
rs900956	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9325868	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20227200-20233400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:20227200-20234000	Weak transcription	HSMMtube	muscle
3	chr8:20230800-20234200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:20231400-20234800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:20231600-20233200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:20231800-20233600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:20232000-20233200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:20232000-20234800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:20232000-20235600	Weak transcription	HMEC	breast
10	chr8:20232200-20233200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:20232200-20233800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:20232400-20233400	Weak transcription	HSMM	muscle
13	chr8:20232400-20234000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:20232400-20236000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:20232400-20236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:20232400-20242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:20232600-20234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:20232600-20234000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:20232800-20233600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:20232800-20233800	Enhancers	Fetal Brain Male	brain
21	chr8:20232800-20234800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:20233000-20233200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr8:20233000-20233200	Enhancers	Brain Germinal Matrix	brain
24	chr8:20233000-20233400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:20233000-20233400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:20233000-20234200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:20233000-20234200	Enhancers	Adipose Nuclei	Adipose
28	chr8:20233000-20234800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:20233000-20236600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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