Variant report

Variant	rs72830077
Chromosome Location	chr5:167129354-167129355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10058151	1.00[ASN][1000 genomes]
rs11744500	1.00[ASN][1000 genomes]
rs55814675	1.00[ASN][1000 genomes]
rs56111454	1.00[ASN][1000 genomes]
rs62382816	1.00[ASN][1000 genomes]
rs6555766	1.00[ASN][1000 genomes]
rs6876801	1.00[ASN][1000 genomes]
rs72819682	1.00[ASN][1000 genomes]
rs72819683	1.00[ASN][1000 genomes]
rs72819696	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72819701	1.00[ASN][1000 genomes]
rs72821806	1.00[ASN][1000 genomes]
rs72829393	1.00[ASN][1000 genomes]
rs72829394	1.00[AMR][1000 genomes]
rs72830072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72830076	1.00[ASN][1000 genomes]
rs72830079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830082	1.00[ASN][1000 genomes]
rs72830084	1.00[ASN][1000 genomes]
rs72830085	1.00[ASN][1000 genomes]
rs72830087	1.00[ASN][1000 genomes]
rs72830099	1.00[AFR][1000 genomes]
rs72835627	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7732135	1.00[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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv5115	chr5:167101911-167147020	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167125000-167129400	Enhancers	Hela-S3	cervix
2	chr5:167125000-167129400	Enhancers	HMEC	breast
3	chr5:167125000-167129400	Enhancers	NHEK	skin
4	chr5:167125200-167129400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:167125200-167129400	Enhancers	NH-A	brain
6	chr5:167125400-167129400	Enhancers	Osteobl	bone
7	chr5:167126600-167129400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:167126600-167130200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:167126800-167131600	Weak transcription	Fetal Lung	lung
10	chr5:167127200-167129400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:167127200-167129400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:167127200-167132600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:167127600-167129400	Enhancers	A549	lung
14	chr5:167128600-167129400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:167128800-167129400	Genic enhancers	HSMM	muscle
16	chr5:167128800-167131200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:167129000-167129400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:167129000-167129400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:167129000-167129600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:167129200-167129400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:167129200-167129400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:167129200-167129400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:167129200-167129400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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