Variant report

Variant	rs72753097
Chromosome Location	chr5:42499015-42499016
allele	A/G
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:
2	chr5:42493526..42495310-chr5:42496926..42499745,2	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	0.85[AFR][1000 genomes];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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753100	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72754906	0.82[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	0.90[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42490600-42499200	Weak transcription	Pancreas	Pancrea
2	chr5:42490800-42499200	Weak transcription	Left Ventricle	heart
3	chr5:42492000-42499200	Weak transcription	Right Atrium	heart
4	chr5:42492200-42499200	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:42492200-42499200	Weak transcription	Ovary	ovary
6	chr5:42493200-42499800	Weak transcription	Fetal Lung	lung
7	chr5:42495200-42500000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:42495800-42499200	Weak transcription	Right Ventricle	heart
9	chr5:42496000-42501200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:42496400-42499800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:42496400-42500200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:42496600-42499400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:42496600-42500000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:42496600-42502200	Enhancers	Liver	Liver
15	chr5:42496800-42499800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:42496800-42500000	Weak transcription	NHEK	skin
17	chr5:42496800-42503200	Weak transcription	HMEC	breast
18	chr5:42497200-42499200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:42497200-42499200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:42497200-42499400	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:42497600-42499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:42498400-42499200	Weak transcription	Psoas Muscle	Psoas
23	chr5:42498400-42499400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:42498400-42499400	Weak transcription	Fetal Heart	heart
25	chr5:42498600-42500800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:42498600-42507600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:42498600-42514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:42499000-42501000	Enhancers	Adipose Nuclei	Adipose

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