Variant report

Variant	rs6127251
Chromosome Location	chr20:53284926-53284927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:53271526..53272315-chr20:53284327..53285178,2	MCF-7	breast:
2	chr20:53284416..53286265-chr3:64518639..64520757,22	MCF-7	breast:
3	chr20:46292698..46293246-chr20:53284814..53285656,2	MCF-7	breast:
4	chr20:53284372..53285796-chr3:64515862..64518059,16	MCF-7	breast:
5	chr14:107280547..107281356-chr20:53284372..53285340,2	MCF-7	breast:
6	chr17:62398118..62398967-chr20:53284782..53285787,4	MCF-7	breast:
7	chr20:53282910..53285557-chr7:133594422..133596091,2	MCF-7	breast:
8	chr20:53263133..53263665-chr20:53284817..53285627,3	MCF-7	breast:
9	chr20:52823269..52825288-chr20:53284524..53286083,2	MCF-7	breast:
10	chr20:53283455..53285734-chr3:64506182..64507970,2	MCF-7	breast:
11	chr20:53284783..53285767-chr20:53342880..53343689,2	MCF-7	breast:
12	chr20:53275084..53275860-chr20:53284526..53285663,3	MCF-7	breast:
13	chr20:53265683..53266760-chr20:53284578..53285846,10	MCF-7	breast:
14	chr20:53284841..53286002-chr20:53342966..53343740,4	MCF-7	breast:
15	chr20:52840058..52843007-chr20:53284448..53286480,2	MCF-7	breast:
16	chr20:53283718..53285867-chr3:64515756..64517189,9	MCF-7	breast:
17	chr20:53281054..53285156-chr3:64517678..64520991,4	MCF-7	breast:
18	chr20:53283717..53285430-chr3:64475712..64477407,2	MCF-7	breast:
19	chr20:53284827..53285806-chr20:53297032..53297616,3	MCF-7	breast:
20	chr20:53284764..53285373-chr20:53297635..53298458,2	MCF-7	breast:
21	chr20:53284753..53285783-chr3:64518725..64520000,8	MCF-7	breast:
22	chr20:53272079..53274152-chr20:53283538..53285655,2	MCF-7	breast:
23	chr20:53266056..53266639-chr20:53284797..53285724,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253128	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000163638	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1012643	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1474763	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1997834	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2870337	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2870340	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2904389	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4362623	0.82[EUR][1000 genomes]
rs6014111	0.81[EUR][1000 genomes]
rs6014112	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6023474	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6023475	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6023477	0.84[AMR][1000 genomes]
rs6064102	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6068935	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
2	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv1060552	chr20:53234716-53655115	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53280600-53285000	Weak transcription	Ovary	ovary
2	chr20:53280800-53285000	Weak transcription	Fetal Heart	heart
3	chr20:53281800-53285600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:53284200-53285600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr20:53284800-53285800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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