Variant report

Variant	rs4864714
Chromosome Location	chr4:53906993-53906994
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	chr4:53902427..53904584-chr4:53906894..53909566,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10013152	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10024057	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11941906	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1384696	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17082301	1.00[ASN][1000 genomes]
rs17082330	0.96[ASN][1000 genomes]
rs2062185	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062186	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28404612	0.81[ASN][1000 genomes]
rs28507473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28592856	1.00[ASN][1000 genomes]
rs28652757	0.93[ASN][1000 genomes]
rs28688668	0.97[ASN][1000 genomes]
rs28713187	1.00[ASN][1000 genomes]
rs3912335	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419529	1.00[ASN][1000 genomes]
rs4864712	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825075	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6855010	0.97[ASN][1000 genomes]
rs7658716	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7671836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694940	1.00[ASN][1000 genomes]
rs7698034	0.97[ASN][1000 genomes]
rs9312635	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9999433	0.82[AMR][1000 genomes];1.00[ASN][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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53903000-53913400	Weak transcription	NHDF-Ad	bronchial
2	chr4:53904600-53921400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:53904800-53929800	Weak transcription	Primary T cells from cord blood	blood
4	chr4:53905600-53907000	Enhancers	K562	blood
5	chr4:53905600-53907600	Enhancers	Hela-S3	cervix
6	chr4:53905800-53907000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr4:53906000-53907000	Enhancers	HSMMtube	muscle
8	chr4:53906200-53921400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:53906400-53907200	Weak transcription	Psoas Muscle	Psoas
10	chr4:53906400-53907600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:53906400-53921400	Weak transcription	NHLF	lung
12	chr4:53906800-53921400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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