Variant report

Variant	rs1930285
Chromosome Location	chr1:184217979-184217980
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	chr1:184216434..184218837-chr1:184246190..184247792,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10047215	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10737250	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10797943	0.91[ASN][1000 genomes]
rs10797951	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10797952	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10797953	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911545	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10911546	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911547	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911548	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911549	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911550	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911551	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911553	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10911554	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10911555	0.81[CEU][hapmap];0.95[CHB][hapmap]
rs11576933	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11579542	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11585071	0.80[CEU][hapmap];0.86[CHB][hapmap]
rs11802851	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12021761	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12028040	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12046452	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12119018	0.83[AFR][1000 genomes]
rs12124041	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12128341	0.87[ASN][1000 genomes]
rs16822656	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16822659	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17574056	0.84[ASN][1000 genomes]
rs1930290	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2042556	0.82[ASN][1000 genomes]
rs4428848	0.81[CEU][hapmap];0.95[CHB][hapmap]
rs4651184	0.87[ASN][1000 genomes]
rs4651185	0.87[ASN][1000 genomes]
rs4651200	0.81[CEU][hapmap];0.95[CHB][hapmap]
rs57882451	0.87[ASN][1000 genomes]
rs6424941	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6424942	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6424943	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6661497	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6666447	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66781583	0.87[ASN][1000 genomes]
rs6678439	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6684045	0.87[ASN][1000 genomes]
rs6684740	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6691210	0.87[ASN][1000 genomes]
rs6693421	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6696916	0.92[ASN][1000 genomes]
rs6697577	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67878484	0.82[ASN][1000 genomes]
rs72735619	0.87[ASN][1000 genomes]
rs72735632	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7355183	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7517993	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525134	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7530243	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7543622	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs932993	0.91[CHB][hapmap]
rs957558	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs963234	0.81[CEU][hapmap];0.95[CHB][hapmap]
rs9787399	0.81[CEU][hapmap];0.95[CHB][hapmap]
rs997343	0.87[ASN][1000 genomes]
rs997568	0.84[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1930285	GLT25D2	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184212000-184222200	Weak transcription	Fetal Heart	heart
2	chr1:184212200-184229400	Weak transcription	NHLF	lung
3	chr1:184215200-184218200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:184217800-184218000	Enhancers	Brain Cingulate Gyrus	brain

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