Variant report

Variant	rs1992000
Chromosome Location	chr2:142613860-142613861
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142601107..142603350-chr2:142610818..142614066,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10168519	0.91[CEU][hapmap];0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10182153	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10204177	0.90[CEU][hapmap];0.93[CHB][hapmap]
rs1160815	0.83[EUR][1000 genomes]
rs12691623	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12691624	0.95[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap]
rs12992880	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12993061	0.89[CHB][hapmap]
rs13004344	0.85[JPT][hapmap]
rs13007371	0.90[CEU][hapmap];0.94[CHB][hapmap]
rs13009181	0.89[ASN][1000 genomes]
rs13016459	0.83[CHB][hapmap]
rs13018903	0.89[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs13019219	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs13031421	0.88[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs13031743	0.83[CHB][hapmap]
rs1369537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1435593	0.85[CEU][hapmap]
rs1435595	0.80[JPT][hapmap]
rs16847378	0.88[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2217964	0.84[JPT][hapmap]
rs352973	0.80[JPT][hapmap]
rs352976	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs352978	0.95[CEU][hapmap]
rs352982	0.95[CEU][hapmap]
rs4662269	0.90[CEU][hapmap];0.94[CHB][hapmap]
rs4662270	0.91[CEU][hapmap];0.94[CHB][hapmap]
rs4662271	0.83[CHB][hapmap]
rs4662467	0.91[CEU][hapmap];0.94[CHB][hapmap]
rs4662468	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530398	chr2:142474842-142843839	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv875249	chr2:142527100-142614345	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv875250	chr2:142540240-142614345	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1009893	chr2:142585905-142662116	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv459674	chr2:142592560-142636907	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv583237	chr2:142592560-142636907	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142613600-142614800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:142613800-142614200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:142613800-142614400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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