Variant report

Variant	rs12657575
Chromosome Location	chr5:88576071-88576072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:88575426..88577692-chr5:89705611..89707343,2	K562	blood:
2	chr5:88574584..88577579-chr5:88578180..88581256,5	K562	blood:

Variant related genes	Relation type
ENSG00000255647	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12653655	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12654335	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12657507	1.00[AMR][1000 genomes]
rs12659254	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1422088	0.94[ASN][1000 genomes]
rs1833588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34324795	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59344477	1.00[AMR][1000 genomes]
rs60081637	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60218625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6452807	1.00[AMR][1000 genomes]
rs6452810	1.00[AMR][1000 genomes]
rs6886996	1.00[AMR][1000 genomes]
rs6890064	1.00[AMR][1000 genomes]
rs7705947	1.00[AMR][1000 genomes]
rs7711573	1.00[ASN][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88569000-88576400	Enhancers	K562	blood
2	chr5:88569400-88577400	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:88571000-88578600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:88573200-88576400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:88573800-88576200	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:88573800-88578600	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:88574000-88577200	Weak transcription	NH-A	brain
8	chr5:88574000-88577600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:88574000-88578200	Weak transcription	NHLF	lung
10	chr5:88574200-88576400	Weak transcription	Aorta	Aorta
11	chr5:88574200-88577200	Weak transcription	Psoas Muscle	Psoas
12	chr5:88574200-88577200	Weak transcription	Osteobl	bone
13	chr5:88574200-88578200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:88574200-88578400	Weak transcription	NHEK	skin
15	chr5:88574400-88578200	Weak transcription	HMEC	breast
16	chr5:88574600-88576200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:88574600-88578200	Weak transcription	NHDF-Ad	bronchial
18	chr5:88574600-88578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:88574800-88576800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:88574800-88577600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:88574800-88578000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:88574800-88578200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:88574800-88578200	Weak transcription	HSMM	muscle
24	chr5:88574800-88578200	Weak transcription	HSMMtube	muscle
25	chr5:88574800-88578400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:88575000-88578200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:88575200-88576200	Enhancers	Fetal Heart	heart
28	chr5:88575200-88577400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:88575400-88576200	Flanking Active TSS	GM12878-XiMat	blood
30	chr5:88575600-88576200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:88575600-88576200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:88575600-88576400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:88575600-88576400	Enhancers	Primary B cells from cord blood	blood
34	chr5:88575600-88577000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr5:88576000-88576200	Enhancers	Hela-S3	cervix

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