Variant report

Variant	rs4412049
Chromosome Location	chr4:57727962-57727963
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	chr4:57721960..57724610-chr4:57727850..57729701,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12645070	0.86[AMR][1000 genomes]
rs12648788	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55762216	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56162812	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56281640	0.81[ASN][1000 genomes]
rs58408429	0.83[AMR][1000 genomes]
rs58548607	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59708338	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59713092	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60796028	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62308104	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66790703	0.83[AMR][1000 genomes]
rs67043033	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6853156	0.81[AMR][1000 genomes]
rs704637	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73165958	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73165962	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73165963	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73165969	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7658601	0.84[AMR][1000 genomes]
rs7665147	0.81[AMR][1000 genomes]
rs781561	0.86[ASN][1000 genomes]
rs781656	0.82[AMR][1000 genomes]
rs781658	0.83[AMR][1000 genomes]
rs781663	0.83[AMR][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57724600-57729400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:57725000-57729400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:57725000-57729400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:57725000-57729600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:57725200-57729800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr4:57727200-57728000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:57727400-57728000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:57727400-57728000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:57727800-57728000	Enhancers	GM12878-XiMat	blood
10	chr4:57727800-57729400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:57727800-57729800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:57727800-57737600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:57727800-57740600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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