Variant report

Variant	rs13162596
Chromosome Location	chr5:42576257-42576258
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	chr5:42560399..42563137-chr5:42575975..42577775,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10941581	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11744988	0.81[AMR][1000 genomes]
rs11954102	0.89[EUR][1000 genomes]
rs35703418	0.89[EUR][1000 genomes]
rs59463904	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72753093	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72753097	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72753100	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72754906	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72754916	0.85[EUR][1000 genomes]
rs72754917	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72754922	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72754935	0.93[EUR][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	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	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
4	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	chr5:42568000-42579400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:42568000-42581400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:42568000-42582200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:42568400-42581800	Weak transcription	Fetal Stomach	stomach
5	chr5:42568400-42582800	Weak transcription	Ovary	ovary
6	chr5:42571800-42579400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:42571800-42581200	Weak transcription	Adipose Nuclei	Adipose
8	chr5:42571800-42583400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:42572000-42578600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:42572200-42587800	Weak transcription	Left Ventricle	heart
11	chr5:42572400-42582800	Weak transcription	Right Ventricle	heart
12	chr5:42572800-42579400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:42572800-42583000	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:42573000-42579400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:42573000-42581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:42573000-42582000	Weak transcription	Fetal Lung	lung
17	chr5:42573400-42579000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:42573600-42586600	Weak transcription	Psoas Muscle	Psoas
19	chr5:42574600-42579400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:42576200-42581200	Enhancers	Liver	Liver

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