Variant report

Variant	rs56745821
Chromosome Location	chr17:17509992-17509993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17504788..17507617-chr17:17507933..17511069,3	K562	blood:
2	chr17:17495233..17498168-chr17:17505537..17510752,5	MCF-7	breast:
3	chr17:17494037..17495633-chr17:17507321..17510221,2	K562	blood:
4	chr17:17397187..17399727-chr17:17509208..17511781,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264666	Chromatin interaction
ENSG00000133027	Chromatin interaction
ENSG00000108551	Chromatin interaction

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

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

rs_ID	r²[population]
rs11867208	0.83[AFR][1000 genomes]
rs12453139	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12603596	0.93[ASN][1000 genomes]
rs1809205	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4925027	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57928542	0.88[ASN][1000 genomes]
rs58023844	0.81[ASN][1000 genomes]
rs6502609	0.83[AFR][1000 genomes]
rs73288103	0.98[ASN][1000 genomes]
rs73288113	0.86[ASN][1000 genomes]
rs8064566	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8076452	0.90[ASN][1000 genomes]
rs8081810	0.85[ASN][1000 genomes]
rs9891282	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17507000-17512600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:17507200-17510200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:17507200-17512600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:17508000-17510000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr17:17508000-17510400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:17508200-17510600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:17508400-17510600	Enhancers	Spleen	Spleen
8	chr17:17508400-17510800	Enhancers	NHDF-Ad	bronchial
9	chr17:17508600-17510200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:17508600-17510600	Enhancers	NHLF	lung
11	chr17:17508600-17515200	Weak transcription	Lung	lung
12	chr17:17508800-17510000	Enhancers	Hela-S3	cervix
13	chr17:17508800-17510200	Enhancers	Fetal Lung	lung
14	chr17:17509200-17510000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:17509200-17510400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:17509200-17512600	Weak transcription	Right Ventricle	heart
17	chr17:17509400-17515400	Weak transcription	HSMMtube	muscle
18	chr17:17509400-17517800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:17509600-17510200	Enhancers	Fetal Heart	heart
20	chr17:17509600-17510200	Enhancers	Fetal Muscle Trunk	muscle
21	chr17:17509600-17510200	Enhancers	Right Atrium	heart
22	chr17:17509600-17510400	Enhancers	Fetal Muscle Leg	muscle
23	chr17:17509800-17510000	Flanking Active TSS	K562	blood
24	chr17:17509800-17510200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:17509800-17510600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:17509800-17510600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr17:17509800-17512400	Weak transcription	Fetal Intestine Small	intestine
28	chr17:17509800-17512400	Weak transcription	Fetal Stomach	stomach
29	chr17:17509800-17515400	Weak transcription	Left Ventricle	heart

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