Variant report

Variant	rs56389713
Chromosome Location	chr20:1185294-1185295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12480258	0.86[EUR][1000 genomes]
rs17778888	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55658568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55924053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56362317	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56746686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58974011	0.86[EUR][1000 genomes]
rs59098165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6104732	1.00[ASN][1000 genomes]
rs6104733	1.00[ASN][1000 genomes]
rs7269259	0.95[ASN][1000 genomes]
rs7271653	0.86[EUR][1000 genomes]
rs73071702	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73073613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073619	0.84[EUR][1000 genomes]
rs9789799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789836	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1179600-1192800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:1183800-1185400	Enhancers	Fetal Lung	lung
3	chr20:1183800-1185600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr20:1184200-1185600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:1184200-1185600	Enhancers	Esophagus	oesophagus
6	chr20:1184200-1185600	Enhancers	Placenta	Placenta
7	chr20:1184200-1185600	Enhancers	Spleen	Spleen
8	chr20:1184600-1185600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr20:1184600-1185600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr20:1184600-1190000	Weak transcription	K562	blood
11	chr20:1184800-1185400	Enhancers	Primary hematopoietic stem cells	blood
12	chr20:1184800-1185600	Enhancers	Left Ventricle	heart
13	chr20:1184800-1185800	Enhancers	Fetal Muscle Trunk	muscle
14	chr20:1185000-1185600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:1185200-1185400	Enhancers	Lung	lung
16	chr20:1185200-1187200	Weak transcription	Adipose Nuclei	Adipose
17	chr20:1185200-1193400	Weak transcription	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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