Variant report

Variant	rs59388080
Chromosome Location	chr5:74537260-74537261
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	chr5:74535747..74537406-chr5:74677465..74679427,2	K562	blood:

Variant related genes	Relation type
ENSG00000113163	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11952940	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11955901	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11959556	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34711940	0.83[AMR][1000 genomes]
rs57091259	0.84[EUR][1000 genomes]
rs57128332	0.84[EUR][1000 genomes]
rs57350864	0.84[EUR][1000 genomes]
rs57923199	0.84[EUR][1000 genomes]
rs58869372	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59226666	0.84[EUR][1000 genomes]
rs59641773	0.84[EUR][1000 genomes]
rs60342717	0.84[EUR][1000 genomes]
rs60349474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6870950	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6893867	0.84[EUR][1000 genomes]
rs6894556	0.84[EUR][1000 genomes]
rs6895538	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6898122	0.84[EUR][1000 genomes]
rs73114819	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73114824	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73114825	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73114836	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73114854	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73116837	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73116843	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73116846	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73127360	0.84[EUR][1000 genomes]
rs73127366	0.84[EUR][1000 genomes]
rs73127392	0.84[EUR][1000 genomes]
rs73129052	0.84[EUR][1000 genomes]
rs73131069	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7717760	0.84[EUR][1000 genomes]
rs7720035	0.84[EUR][1000 genomes]
rs7722905	0.84[EUR][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	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
2	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv882190	chr5:74463185-74554826	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv882191	chr5:74478078-74554826	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74533400-74537400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:74533800-74537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:74535000-74538000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:74535000-74540200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:74535400-74538000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:74535400-74539000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:74535600-74539800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:74535800-74537800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:74535800-74537800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:74535800-74539200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:74536200-74537400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:74536200-74537800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:74536200-74538000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:74536200-74539200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:74536200-74540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:74536400-74537400	Weak transcription	Placenta	Placenta
17	chr5:74536400-74537800	Weak transcription	NHEK	skin
18	chr5:74536400-74538000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:74536400-74538000	Weak transcription	HMEC	breast

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