Variant report

Variant	rs793047
Chromosome Location	chr20:52960841-52960842
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52958855..52961034-chr20:53073110..53075206,2	MCF-7	breast:
2	chr20:52884175..52887299-chr20:52959985..52962637,4	MCF-7	breast:
3	chr20:52955260..52957425-chr20:52959176..52960946,2	K562	blood:
4	chr20:52947094..52949418-chr20:52960288..52961844,2	MCF-7	breast:
5	chr20:52960622..52961188-chr20:55840326..55841307,2	MCF-7	breast:
6	chr20:52932642..52935057-chr20:52959854..52962762,2	K562	blood:
7	chr20:52877688..52880312-chr20:52960280..52962088,2	MCF-7	breast:
8	chr20:52891107..52893591-chr20:52960404..52961944,2	MCF-7	breast:
9	chr20:52823411..52827857-chr20:52956007..52962022,9	MCF-7	breast:
10	chr20:52870717..52873614-chr20:52960428..52962256,2	MCF-7	breast:
11	chr20:52837337..52840650-chr20:52960350..52963395,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101144	Chromatin interaction
ENSG00000101132	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1087050	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1293147	0.97[ASN][1000 genomes]
rs6013975	0.90[AMR][1000 genomes]
rs6013977	0.94[ASN][1000 genomes]
rs6013981	1.00[ASN][1000 genomes]
rs6097927	0.94[ASN][1000 genomes]
rs707552	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7264904	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793039	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs793040	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs793045	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs793046	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs793048	1.00[ASN][1000 genomes]
rs793049	0.97[ASN][1000 genomes]
rs793050	0.97[ASN][1000 genomes]
rs811571	1.00[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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52956000-52963800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:52957400-52961400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr20:52957600-52962000	Weak transcription	Colon Smooth Muscle	Colon
4	chr20:52958000-52961200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr20:52958000-52961400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:52958000-52961400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:52958200-52961200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr20:52958200-52961200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr20:52958200-52961400	Weak transcription	Psoas Muscle	Psoas
10	chr20:52958200-52961400	Weak transcription	NH-A	brain
11	chr20:52958400-52961200	Weak transcription	NHDF-Ad	bronchial
12	chr20:52958400-52961200	Weak transcription	Osteobl	bone
13	chr20:52958400-52961400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:52959600-52963000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr20:52959800-52961400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr20:52959800-52963600	Weak transcription	Fetal Brain Female	brain
17	chr20:52959800-52964400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:52960000-52961200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr20:52960000-52961800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr20:52960200-52961400	Enhancers	A549	lung
21	chr20:52960200-52961400	Enhancers	Hela-S3	cervix
22	chr20:52960200-52963200	Weak transcription	Brain Germinal Matrix	brain
23	chr20:52960400-52963600	Weak transcription	Fetal Brain Male	brain
24	chr20:52960600-52961000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr20:52960800-52961200	Weak transcription	HUVEC	blood vessel
26	chr20:52960800-52962000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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