Variant report

Variant	rs8125542
Chromosome Location	chr20:53073747-53073748
allele	C/T
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:53069456..53072072-chr20:53072246..53075486,5	MCF-7	breast:
2	chr20:53062391..53065674-chr20:53071896..53077511,6	MCF-7	breast:
3	chr20:53072717..53074828-chr20:53100189..53102033,2	MCF-7	breast:
4	chr20:53073165..53075653-chr20:53254316..53256773,2	MCF-7	breast:
5	chr20:53072388..53074660-chr20:53151314..53154004,2	MCF-7	breast:
6	chr15:73426832..73427680-chr20:53073669..53074543,2	MCF-7	breast:
7	chr17:57935159..57937058-chr20:53072922..53074695,2	MCF-7	breast:
8	chr20:52195171..52195894-chr20:53073447..53074074,2	MCF-7	breast:
9	chr20:53067710..53071026-chr20:53071242..53075338,6	MCF-7	breast:
10	chr20:52835069..52840886-chr20:53069895..53074543,8	MCF-7	breast:
11	chr17:57921614..57924540-chr20:53073041..53074616,2	MCF-7	breast:
12	chr20:53073108..53074852-chr20:53089210..53091091,3	MCF-7	breast:
13	chr20:53067721..53069339-chr20:53072421..53074110,2	MCF-7	breast:
14	chr20:52958855..52961034-chr20:53073110..53075206,2	MCF-7	breast:
15	chr20:53073220..53074160-chr20:53262587..53263752,7	MCF-7	breast:
16	chr17:57169195..57171113-chr20:53073297..53075048,2	MCF-7	breast:
17	chr20:53073105..53076272-chr20:53092801..53096708,6	MCF-7	breast:
18	chr20:53071006..53073926-chr20:53086546..53089088,2	MCF-7	breast:
19	chr20:52844972..52848737-chr20:53072489..53075619,3	MCF-7	breast:
20	chr17:57922217..57924072-chr20:53073078..53074679,2	MCF-7	breast:
21	chr20:52884195..52887005-chr20:53073312..53075000,2	MCF-7	breast:
22	chr1:121483247..121486373-chr20:53072094..53074537,3	MCF-7	breast:
23	chr20:52823572..52826255-chr20:53070160..53074731,6	MCF-7	breast:
24	chr20:53073193..53074159-chr20:53265077..53266051,2	MCF-7	breast:
25	chr20:53073207..53074105-chr20:53262668..53263905,3	MCF-7	breast:
26	chr17:57913216..57918215-chr20:53071385..53076624,7	MCF-7	breast:
27	chr20:52823596..52826138-chr20:53070146..53074337,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101132	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16999288	1.00[MEX][hapmap]
rs16999757	1.00[CHD][hapmap]
rs6023385	1.00[CHD][hapmap]
rs6091938	1.00[MEX][hapmap]
rs6098129	1.00[CHD][hapmap]
rs7268501	1.00[CHD][hapmap]
rs7271301	1.00[ASW][hapmap];1.00[YRI][hapmap]

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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv834012	chr20:52921007-53097177	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53073000-53073800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr20:53073400-53073800	Enhancers	Psoas Muscle	Psoas

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