Variant report

Variant	rs1922258
Chromosome Location	chr12:124353657-124353658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124353486..124356453-chr12:124360232..124362800,2	MCF-7	breast:
2	chr12:124353111..124356110-chr12:124447736..124450126,2	K562	blood:
3	chr12:124351615..124353844-chr12:124456020..124457584,2	MCF-7	breast:
4	chr12:124332831..124334511-chr12:124351979..124354225,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179195	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000119242	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10773041	0.99[ASN][1000 genomes]
rs10773043	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10773046	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10773047	0.88[ASN][1000 genomes]
rs10846562	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs10846564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10846565	0.81[CEU][hapmap]
rs10846566	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10846567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10846570	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10846571	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10846572	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10846573	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10846574	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs11057378	0.91[EUR][1000 genomes]
rs11057379	1.00[CEU][hapmap]
rs11057380	0.81[CEU][hapmap]
rs11057381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11057388	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11057389	0.89[ASN][1000 genomes]
rs11057390	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12228611	0.95[EUR][1000 genomes]
rs12306328	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12307524	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12309481	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1317312	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs1317386	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1882489	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1922257	0.81[CEU][hapmap]
rs2341779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[ASN][1000 genomes]
rs4390427	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930727	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57078519	0.81[ASN][1000 genomes]
rs57316347	0.81[ASN][1000 genomes]
rs6488905	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6488907	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6488910	1.00[JPT][hapmap]
rs7296123	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7297429	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7300037	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7303634	0.90[ASN][1000 genomes]
rs7313897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314278	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7314335	0.99[ASN][1000 genomes]
rs7314963	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7959519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7976319	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7977078	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7977713	0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs9669530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124352200-124354200	Enhancers	Fetal Brain Male	brain
2	chr12:124352800-124354600	Enhancers	Fetal Brain Female	brain
3	chr12:124353400-124353800	Enhancers	Brain Cingulate Gyrus	brain
4	chr12:124353400-124353800	Enhancers	Brain Substantia Nigra	brain
5	chr12:124353400-124354600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr12:124353400-124354600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr12:124353600-124353800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr12:124353600-124354600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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