Variant report

Variant	rs38057
Chromosome Location	chr5:52559840-52559841
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52556927..52559898-chr5:53605181..53607975,2	K562	blood:
2	chr5:52555362..52559874-chr5:52773388..52777640,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134363	Chromatin interaction
ENSG00000185305	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10055035	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs152974	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs153122	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs153125	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs153128	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs251513	0.86[AMR][1000 genomes]
rs251523	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs251526	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs252036	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs252037	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs252039	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs27315	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs27317	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs27906	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28088	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs30711	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs37775	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs38049	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs38059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs39859	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs40229	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs420035	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs42205	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs607480	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73754209	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv522454	chr5:52492677-52571758	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52548600-52561400	Enhancers	HMEC	breast
2	chr5:52556600-52561400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:52557400-52560600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:52558600-52561600	Enhancers	NHEK	skin
5	chr5:52559400-52560000	Enhancers	Colon Smooth Muscle	Colon
6	chr5:52559400-52560400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:52559400-52563600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:52559600-52560000	Weak transcription	NHDF-Ad	bronchial
9	chr5:52559800-52561200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:52559800-52561400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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