Variant report

Variant	rs28781001
Chromosome Location	chr11:120580572-120580573
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	chr11:120572331..120575238-chr11:120578976..120580756,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11217978	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11217979	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11217980	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217981	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11217983	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217984	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11217987	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11217988	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217989	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12270409	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12274300	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276408	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12276440	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12281464	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12281614	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12294858	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17124211	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2852227	0.80[ASN][1000 genomes]
rs4567478	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61901379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61901380	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61902685	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61902688	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7103021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7103418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120727	0.80[ASN][1000 genomes]
rs7946325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9630199	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9630200	0.82[AMR][1000 genomes];0.87[EUR][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	nsv1054407	chr11:120535570-120630114	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3693392	chr11:120549745-120628012	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120568000-120580600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:120570000-120581600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:120578200-120580600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:120578600-120581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120578800-120580800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:120578800-120581000	Weak transcription	Ovary	ovary
7	chr11:120579000-120580600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:120579000-120581200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:120579000-120583000	Enhancers	Fetal Intestine Large	intestine
10	chr11:120579200-120585200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:120579400-120580800	Enhancers	HepG2	liver
12	chr11:120579600-120581000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:120579800-120581200	Weak transcription	Left Ventricle	heart
14	chr11:120579800-120581400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:120580000-120585800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:120580200-120581000	Weak transcription	Fetal Intestine Small	intestine
17	chr11:120580200-120583800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:120580400-120581000	Flanking Active TSS	GM12878-XiMat	blood
19	chr11:120580400-120581200	Enhancers	Adipose Nuclei	Adipose
20	chr11:120580400-120583000	Enhancers	Brain Hippocampus Middle	brain
21	chr11:120580400-120583000	Enhancers	Fetal Lung	lung
22	chr11:120580400-120583800	Enhancers	NHDF-Ad	bronchial

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