Variant report

Variant	rs2561590
Chromosome Location	chr5:88571074-88571075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:88560471..88562685-chr5:88569721..88571968,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2545606	0.81[ASN][1000 genomes]
rs40603	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41134	0.86[ASN][1000 genomes]
rs62378213	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs771438	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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:25 , 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	chr5:88562400-88571800	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:88565200-88575200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:88567600-88572800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:88568000-88572200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:88568000-88575200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:88568200-88571400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:88568600-88575200	Weak transcription	Fetal Heart	heart
9	chr5:88569000-88576400	Enhancers	K562	blood
10	chr5:88569200-88571800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:88569400-88577400	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:88569600-88572400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:88569800-88571600	Weak transcription	HSMM	muscle
14	chr5:88569800-88572000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:88570200-88572400	Weak transcription	HSMMtube	muscle
16	chr5:88570400-88572400	Weak transcription	NHDF-Ad	bronchial
17	chr5:88570600-88571600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:88570600-88571600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:88570800-88571400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:88570800-88571600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:88570800-88571600	Enhancers	Primary B cells from cord blood	blood
22	chr5:88570800-88571600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:88570800-88571600	Enhancers	Placenta	Placenta
24	chr5:88570800-88574200	Enhancers	NHEK	skin
25	chr5:88571000-88578600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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