Variant report

Variant	rs6050128
Chromosome Location	chr20:24898235-24898236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:24892772..24894924-chr20:24896880..24898878,2	MCF-7	breast:
2	chr20:24763298..24765600-chr20:24898179..24900035,23	MCF-7	breast:
3	chr20:24764506..24765162-chr20:24897617..24898498,2	MCF-7	breast:
4	chr20:24887755..24889606-chr20:24897276..24899425,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1029032	0.80[AMR][1000 genomes]
rs127131	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182749	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883830	1.00[ASN][1000 genomes]
rs1883831	1.00[ASN][1000 genomes]
rs2064404	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2179731	1.00[ASN][1000 genomes]
rs2256031	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227603	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227617	0.81[EUR][1000 genomes]
rs227637	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227641	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227642	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227644	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227645	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227647	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227654	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227655	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227656	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28815609	1.00[ASN][1000 genomes]
rs3928737	1.00[ASN][1000 genomes]
rs4239751	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4429533	1.00[ASN][1000 genomes]
rs4815358	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4815359	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55651048	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55681373	1.00[ASN][1000 genomes]
rs6036998	1.00[ASN][1000 genomes]
rs6037003	1.00[ASN][1000 genomes]
rs6037006	1.00[ASN][1000 genomes]
rs6050121	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6050123	1.00[ASN][1000 genomes]
rs6050124	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6050129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6050199	0.89[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050211	1.00[ASN][1000 genomes]
rs6050212	1.00[ASN][1000 genomes]
rs6050214	1.00[ASN][1000 genomes]
rs6050244	1.00[ASN][1000 genomes]
rs6083696	1.00[ASN][1000 genomes]
rs6083697	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6083714	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6083718	1.00[ASN][1000 genomes]
rs6114995	1.00[ASN][1000 genomes]
rs6138432	1.00[ASN][1000 genomes]
rs6138433	1.00[ASN][1000 genomes]
rs6138478	0.80[CEU][hapmap]
rs6515552	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7352631	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761368	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs765834	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8121279	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914309	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs914312	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv432115	chr20:24871385-24915839	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058559	chr20:24880415-24923818	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1061536	chr20:24880777-24930642	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1060158	chr20:24887819-24918081	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1066090	chr20:24887819-24923818	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1065568	chr20:24887819-24925706	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv510783	chr20:24889192-24941933	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv518411	chr20:24897355-24898856	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv524921	chr20:24897355-24932028	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24892600-24898600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:24894000-24898400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:24895800-24898400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:24898000-24899600	Enhancers	Brain Hippocampus Middle	brain

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