Variant report

Variant	rs431061
Chromosome Location	chr20:52580549-52580550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52580548..52582741-chr20:52584848..52587041,2	K562	blood:
2	chr20:52578883..52580609-chr20:52582194..52583717,2	K562	blood:
3	chr20:52578676..52580952-chr20:52822613..52824922,2	MCF-7	breast:
4	chr17:59938997..59940771-chr20:52578844..52581418,2	MCF-7	breast:
5	chr20:52578607..52581315-chr8:144821296..144823256,2	MCF-7	breast:
6	chr17:56708004..56710166-chr20:52580287..52582051,2	MCF-7	breast:
7	chr20:52579682..52581889-chr6:26155321..26157357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000168298	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1016279	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10485440	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1125895	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs12480106	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1477639	0.89[ASN][1000 genomes]
rs169639	0.80[CEU][hapmap]
rs2024063	0.91[JPT][hapmap]
rs2024064	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2024065	0.81[CEU][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024066	0.90[CEU][hapmap]
rs2108456	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2276494	0.89[ASN][1000 genomes]
rs2276496	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2276497	0.89[ASN][1000 genomes]
rs2276502	0.89[ASN][1000 genomes]
rs2276514	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302039	0.95[ASN][1000 genomes]
rs35575210	0.94[ASN][1000 genomes]
rs371096	0.81[YRI][hapmap];0.83[AMR][1000 genomes]
rs3815270	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs382133	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs402992	1.00[CEU][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55672258	0.95[ASN][1000 genomes]
rs55776232	0.89[ASN][1000 genomes]
rs6013853	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs6013861	0.94[ASN][1000 genomes]
rs6022877	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs714514	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7260720	0.81[YRI][hapmap];0.85[AFR][1000 genomes]
rs8120953	0.91[JPT][hapmap]
rs8124068	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
3	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
4	nsv1055549	chr20:52555871-52586281	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52570200-52591800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr20:52570200-52592400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr20:52570800-52590800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:52576400-52591400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr20:52578400-52591200	Weak transcription	HSMMtube	muscle
7	chr20:52578600-52592400	Weak transcription	Brain Hippocampus Middle	brain
8	chr20:52578800-52591800	Weak transcription	Brain Anterior Caudate	brain
9	chr20:52578800-52592400	Weak transcription	Brain Substantia Nigra	brain
10	chr20:52580200-52580800	Enhancers	Stomach Mucosa	stomach
11	chr20:52580400-52580600	Enhancers	Fetal Muscle Leg	muscle
12	chr20:52580400-52580800	Enhancers	Hela-S3	cervix
13	chr20:52580400-52581400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:52580400-52581400	Enhancers	Fetal Brain Female	brain

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