Variant report

Variant	rs57452288
Chromosome Location	chr6:144582123-144582124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:144581612-144582338	A549	lung:	n/a	n/a
2	FOXA1	chr6:144581611-144582151	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144572697..144575302-chr6:144580534..144582260,2	K562	blood:

Variant related genes	Relation type
ENSG00000216475	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1575320	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073557	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56817389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57737359	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484853	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9484861	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9496909	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144569800-144585200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:144580200-144582400	Enhancers	Osteobl	bone
3	chr6:144580600-144582400	Enhancers	HSMM	muscle
4	chr6:144580800-144582400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:144580800-144582400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:144581000-144582200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:144581000-144582200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:144581000-144582400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:144581000-144582400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:144581000-144584000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:144581200-144582400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:144581200-144582400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:144581200-144582400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:144581400-144582200	Enhancers	Fetal Intestine Large	intestine
15	chr6:144581400-144582600	Enhancers	HepG2	liver
16	chr6:144581400-144585000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:144581600-144582400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:144581600-144587200	Weak transcription	Brain Germinal Matrix	brain
19	chr6:144581800-144582200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr6:144581800-144582200	Enhancers	HSMMtube	muscle
21	chr6:144581800-144582200	Flanking Active TSS	NHDF-Ad	bronchial
22	chr6:144582000-144582200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:144582000-144582200	Flanking Active TSS	A549	lung
24	chr6:144582000-144582400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:144582000-144583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:144582000-144585000	Weak transcription	Fetal Heart	heart
27	chr6:144582000-144585000	Weak transcription	NHEK	skin
28	chr6:144582000-144585200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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