Variant report

Variant	rs793045
Chromosome Location	chr20:52962317-52962318
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52884175..52887299-chr20:52959985..52962637,4	MCF-7	breast:
2	chr20:52961156..52964107-chr20:53021407..53023534,2	MCF-7	breast:
3	chr20:52932642..52935057-chr20:52959854..52962762,2	K562	blood:
4	chr20:52823304..52825270-chr20:52962040..52963811,2	MCF-7	breast:
5	chr20:52824808..52826452-chr20:52962078..52964879,2	MCF-7	breast:
6	chr20:52961446..52963751-chr20:55798030..55800254,2	MCF-7	breast:
7	chr20:52961980..52963861-chr20:53060247..53061791,2	MCF-7	breast:
8	chr20:52837337..52840650-chr20:52960350..52963395,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101132	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1087050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1293147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16999413	1.00[CEU][hapmap]
rs374623	1.00[CEU][hapmap]
rs377448	1.00[CEU][hapmap]
rs6013931	1.00[CEU][hapmap]
rs6013975	0.80[AMR][1000 genomes]
rs6013977	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6013979	1.00[EUR][1000 genomes]
rs6013981	0.97[ASN][1000 genomes]
rs6023041	1.00[CEU][hapmap]
rs6097927	0.90[ASN][1000 genomes]
rs707552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7264904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs793039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs793040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs793046	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793047	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs793048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs793049	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs793050	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs811571	0.97[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:45 , 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	chr20:52959600-52963000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr20:52959800-52963600	Weak transcription	Fetal Brain Female	brain
4	chr20:52959800-52964400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:52960200-52963200	Weak transcription	Brain Germinal Matrix	brain
6	chr20:52960400-52963600	Weak transcription	Fetal Brain Male	brain
7	chr20:52961200-52963400	Enhancers	HUVEC	blood vessel
8	chr20:52961200-52963400	Enhancers	Osteobl	bone
9	chr20:52961200-52964200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr20:52961200-52964200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr20:52961400-52962400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr20:52961400-52962400	Flanking Active TSS	A549	lung
13	chr20:52961400-52962400	Enhancers	NHLF	lung
14	chr20:52961400-52962800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr20:52961400-52962800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr20:52961400-52962800	Enhancers	HSMM	muscle
17	chr20:52961400-52963200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr20:52961400-52963200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr20:52961400-52963200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr20:52961400-52963200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr20:52961400-52963200	Enhancers	Adipose Nuclei	Adipose
22	chr20:52961400-52963600	Enhancers	HSMMtube	muscle
23	chr20:52961400-52964000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr20:52961400-52964200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr20:52961600-52962400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:52961600-52963000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr20:52961600-52963800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr20:52961600-52964200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:52961800-52963800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr20:52961800-52972200	Weak transcription	Aorta	Aorta
31	chr20:52962000-52962400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr20:52962000-52962400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr20:52962000-52962600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:52962000-52962600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr20:52962000-52962600	Flanking Active TSS	Hela-S3	cervix
36	chr20:52962000-52962800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr20:52962000-52962800	Enhancers	Colon Smooth Muscle	Colon
38	chr20:52962000-52963200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr20:52962000-52963800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr20:52962000-52964000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr20:52962200-52962400	Flanking Active TSS	NH-A	brain
42	chr20:52962200-52962600	Flanking Active TSS	NHDF-Ad	bronchial
43	chr20:52962200-52963000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr20:52962200-52963200	Enhancers	Ovary	ovary
45	chr20:52962200-52963200	Enhancers	Psoas Muscle	Psoas

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