Variant report

Variant	rs488994
Chromosome Location	chr4:74933259-74933260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74932422..74934350-chr4:74935384..74937829,2	K562	blood:
2	chr4:74932422..74934527-chr4:74935384..74937314,2	K562	blood:
3	chr4:74931273..74933765-chr4:74946004..74948961,2	K562	blood:
4	chr4:74933099..74935451-chr4:74937370..74940149,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1246766	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1261907	1.00[AMR][1000 genomes]
rs164755	1.00[AMR][1000 genomes]
rs164756	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16850399	1.00[AMR][1000 genomes]
rs16850536	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs191613	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2573028	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352039	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352040	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352049	1.00[AMR][1000 genomes]
rs472689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs486154	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs499451	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505197	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs526993	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs539431	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs543325	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs550282	1.00[AMR][1000 genomes]
rs551055	1.00[AMR][1000 genomes]
rs570922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs571068	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3443825	chr4:74903785-74964443	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74928600-74935800	Weak transcription	Small Intestine	intestine
2	chr4:74933200-74934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:74933200-74934200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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