Variant report

Variant	rs72753100
Chromosome Location	chr5:42506132-42506133
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42497451..42499890-chr5:42506080..42508067,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11738203	0.83[EUR][1000 genomes]
rs11743641	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11744988	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11745718	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11748224	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13162596	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56395635	0.83[EUR][1000 genomes]
rs56937761	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57417495	0.83[EUR][1000 genomes]
rs59193921	0.83[EUR][1000 genomes]
rs59463904	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66487711	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66756362	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67526935	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67529954	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67600650	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72753092	0.83[EUR][1000 genomes]
rs72753093	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753097	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72754906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72754916	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72754917	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72754922	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72754935	0.83[EUR][1000 genomes]
rs7727915	0.81[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42498600-42507600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:42498600-42514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:42500200-42507600	Weak transcription	Spleen	Spleen
4	chr5:42500400-42507600	Weak transcription	Psoas Muscle	Psoas
5	chr5:42500400-42507600	Weak transcription	Right Atrium	heart
6	chr5:42500600-42507600	Weak transcription	Aorta	Aorta
7	chr5:42500600-42507600	Weak transcription	Right Ventricle	heart
8	chr5:42500800-42507600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:42501000-42506800	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:42503000-42508400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:42503400-42507800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:42503600-42506800	Weak transcription	Fetal Lung	lung
13	chr5:42503600-42510200	Enhancers	Liver	Liver
14	chr5:42504000-42507600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:42504600-42507600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:42505200-42507600	Weak transcription	Left Ventricle	heart
17	chr5:42505200-42507600	Weak transcription	Ovary	ovary
18	chr5:42505800-42507000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:42505800-42507400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:42505800-42507600	Weak transcription	Adipose Nuclei	Adipose

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