Variant report

Variant	rs6030233
Chromosome Location	chr20:41064266-41064267
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1125550	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1883269	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2142795	0.93[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2179217	0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2205945	0.93[CEU][hapmap];0.90[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2425494	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2425496	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2425498	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4810355	0.80[EUR][1000 genomes]
rs4810356	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4812598	0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4812599	0.83[ASN][1000 genomes]
rs4812600	0.91[ASN][1000 genomes]
rs6016785	0.88[AMR][1000 genomes]
rs6016792	0.87[ASN][1000 genomes]
rs6030215	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6030216	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6030217	0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6030218	0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs6030224	0.93[CEU][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6030226	0.83[ASN][1000 genomes]
rs6030229	0.85[CEU][hapmap];0.90[AMR][1000 genomes]
rs6030232	0.84[ASN][1000 genomes]
rs6030236	0.82[AMR][1000 genomes]
rs6030238	0.86[CEU][hapmap]
rs6030239	0.85[CEU][hapmap];0.81[AMR][1000 genomes]
rs6072745	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6102826	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6513791	0.86[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7268459	0.93[CEU][hapmap];0.83[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8123429	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8125556	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs932320	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs978456	0.87[ASN][1000 genomes]
rs978457	0.87[ASN][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	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833987	chr20:41007663-41184914	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41042000-41070000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41062200-41066400	Weak transcription	Fetal Muscle Leg	muscle
3	chr20:41063600-41064600	Enhancers	GM12878-XiMat	blood

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