Variant report

Variant	rs4847291
Chromosome Location	chr1:94630910-94630911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12044374	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724975	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12752790	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576593	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022397	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2781572	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4847293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847294	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6657063	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6682445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551045	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs951534	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4847291	NENF	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94608400-94632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:94626600-94635800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:94626800-94634800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:94626800-94635200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:94626800-94636800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:94626800-94636800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:94626800-94639200	Weak transcription	NHLF	lung
8	chr1:94626800-94639400	Weak transcription	Psoas Muscle	Psoas
9	chr1:94626800-94639400	Weak transcription	NHEK	skin
10	chr1:94626800-94643400	Weak transcription	Fetal Heart	heart
11	chr1:94627000-94634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:94627000-94634200	Weak transcription	HSMM	muscle
13	chr1:94627000-94634200	Weak transcription	HUVEC	blood vessel
14	chr1:94627000-94634400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:94627000-94634600	Weak transcription	Osteobl	bone
16	chr1:94627000-94636200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:94627000-94639400	Weak transcription	HSMMtube	muscle
18	chr1:94627200-94634200	Weak transcription	NH-A	brain
19	chr1:94627200-94634400	Weak transcription	NHDF-Ad	bronchial
20	chr1:94627400-94635000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:94629800-94639400	Weak transcription	Spleen	Spleen
22	chr1:94630800-94639400	Weak transcription	Gastric	stomach

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