Variant report

Variant	rs58351064
Chromosome Location	chr2:114520480-114520481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114512582..114515674-chr2:114516372..114520568,3	MCF-7	breast:
2	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:
3	chr2:114496162..114498041-chr2:114518174..114520618,2	K562	blood:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10514810	0.92[ASN][1000 genomes]
rs11674510	0.86[AFR][1000 genomes]
rs11676758	0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11677881	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679736	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11687572	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11694541	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17632073	0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17633527	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17683666	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17684620	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166965	0.92[ASN][1000 genomes]
rs2290107	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3748907	0.95[ASN][1000 genomes]
rs41377545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4849271	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6708711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6725990	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6732182	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73955055	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73955056	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73955057	0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73955059	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73955070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581858	0.95[ASN][1000 genomes]
rs7599741	0.83[AFR][1000 genomes]
rs7599832	0.88[AFR][1000 genomes]
rs9753198	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs58351064	RPL23AP7	cis	Whole Blood	GTEx
rs58351064	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL
rs58351064	DDX11L2	cis	Nerve Tibial	GTEx
rs58351064	DDX11L2	cis	Whole Blood	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114515600-114521600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:114517400-114521000	Enhancers	NHDF-Ad	bronchial
3	chr2:114517600-114521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:114517800-114520800	Enhancers	HSMM	muscle
5	chr2:114517800-114520800	Enhancers	HUVEC	blood vessel
6	chr2:114517800-114520800	Enhancers	NHLF	lung
7	chr2:114517800-114521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:114518000-114520800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:114519200-114520800	Enhancers	NH-A	brain
10	chr2:114519400-114520600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:114519600-114520600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:114519600-114520600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:114519600-114521000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:114519800-114520600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:114519800-114520600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:114519800-114520600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:114519800-114520600	Flanking Active TSS	Osteobl	bone
18	chr2:114519800-114520800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:114520000-114520600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:114520200-114520600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:114520200-114520600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:114520200-114520600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:114520400-114520600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:114520400-114520600	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:114520400-114520600	Enhancers	Left Ventricle	heart
26	chr2:114520400-114520600	Enhancers	Psoas Muscle	Psoas
27	chr2:114520400-114520600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:114520400-114520800	Flanking Active TSS	HSMMtube	muscle
29	chr2:114520400-114521000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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