Variant report

Variant	rs73772138
Chromosome Location	chr5:88576916-88576917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:88576659..88578719-chr5:88581884..88583555,2	K562	blood:
2	chr5:88575426..88577692-chr5:89705611..89707343,2	K562	blood:
3	chr5:88574584..88577579-chr5:88578180..88581256,5	K562	blood:
4	chr5:88576757..88578687-chr5:88614848..88616717,2	K562	blood:

Variant related genes	Relation type
ENSG00000255647	Chromatin interaction

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]
rs73772136	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88569400-88577400	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:88571000-88578600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:88573800-88578600	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:88574000-88577200	Weak transcription	NH-A	brain
5	chr5:88574000-88577600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:88574000-88578200	Weak transcription	NHLF	lung
7	chr5:88574200-88577200	Weak transcription	Psoas Muscle	Psoas
8	chr5:88574200-88577200	Weak transcription	Osteobl	bone
9	chr5:88574200-88578200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:88574200-88578400	Weak transcription	NHEK	skin
11	chr5:88574400-88578200	Weak transcription	HMEC	breast
12	chr5:88574600-88578200	Weak transcription	NHDF-Ad	bronchial
13	chr5:88574600-88578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:88574800-88577600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:88574800-88578000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:88574800-88578200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:88574800-88578200	Weak transcription	HSMM	muscle
18	chr5:88574800-88578200	Weak transcription	HSMMtube	muscle
19	chr5:88574800-88578400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:88575000-88578200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:88575200-88577400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:88575600-88577000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:88576200-88577000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:88576200-88578000	Enhancers	GM12878-XiMat	blood
25	chr5:88576200-88578200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:88576200-88579000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:88576200-88581000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:88576200-88589200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:88576400-88578000	Weak transcription	Primary B cells from cord blood	blood
30	chr5:88576400-88578200	Weak transcription	K562	blood
31	chr5:88576400-88579000	Enhancers	Aorta	Aorta
32	chr5:88576400-88580000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr5:88576600-88577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:88576600-88578200	Enhancers	Fetal Heart	heart
35	chr5:88576600-88580800	Enhancers	Hela-S3	cervix
36	chr5:88576800-88581000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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