Variant report

Variant	rs73772136
Chromosome Location	chr5:88573217-88573218
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:88572989..88574630-chr5:88659627..88662587,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs55763742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55854004	1.00[AMR][1000 genomes]
rs55962744	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56144146	1.00[AMR][1000 genomes]
rs56166481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58741262	1.00[AMR][1000 genomes]
rs59135582	1.00[AMR][1000 genomes]
rs59398300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59784242	1.00[AMR][1000 genomes]
rs6452822	1.00[AMR][1000 genomes]
rs6898669	1.00[AMR][1000 genomes]
rs73770475	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73770478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73770501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772114	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772153	1.00[AMR][1000 genomes]
rs73772160	1.00[AMR][1000 genomes]
rs73772161	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772165	1.00[AMR][1000 genomes]
rs73772166	1.00[AMR][1000 genomes]
rs7713191	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830387	chr5:88547862-88682442	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88561400-88575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:88565200-88575200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:88568000-88575200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:88568600-88575200	Weak transcription	Fetal Heart	heart
5	chr5:88569000-88576400	Enhancers	K562	blood
6	chr5:88569400-88577400	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:88570800-88574200	Enhancers	NHEK	skin
8	chr5:88571000-88578600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:88571400-88574200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:88571600-88573800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:88571600-88574200	Weak transcription	Primary B cells from cord blood	blood
12	chr5:88571600-88574600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:88571600-88574800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:88571600-88574800	Enhancers	HSMM	muscle
15	chr5:88572000-88574200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:88572000-88574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:88572000-88574800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:88572200-88574400	Enhancers	HMEC	breast
19	chr5:88572200-88574800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:88572400-88573400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:88572400-88574000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:88572400-88574000	Enhancers	NH-A	brain
23	chr5:88572400-88574000	Enhancers	NHLF	lung
24	chr5:88572400-88574200	Enhancers	Hela-S3	cervix
25	chr5:88572400-88574200	Enhancers	Osteobl	bone
26	chr5:88572400-88574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:88572400-88574600	Enhancers	NHDF-Ad	bronchial
28	chr5:88572400-88574800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:88572400-88574800	Enhancers	HSMMtube	muscle
30	chr5:88572800-88573800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr5:88572800-88575400	Enhancers	GM12878-XiMat	blood
32	chr5:88573000-88573400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:88573000-88574600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:88573200-88576400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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