Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10516297	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11730922	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13110290	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13120908	0.90[ASN][1000 genomes]
rs13132678	0.89[ASN][1000 genomes]
rs13136172	0.92[ASN][1000 genomes]
rs2872216	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34129131	0.90[ASN][1000 genomes]
rs34496855	0.91[ASN][1000 genomes]
rs34592687	0.92[ASN][1000 genomes]
rs34663238	0.92[ASN][1000 genomes]
rs35475888	0.90[ASN][1000 genomes]
rs35517826	0.89[ASN][1000 genomes]
rs35804424	0.92[ASN][1000 genomes]
rs35806798	0.89[ASN][1000 genomes]
rs35899968	0.92[ASN][1000 genomes]
rs3749544	0.88[ASN][1000 genomes]
rs4159	0.81[EUR][1000 genomes]
rs56353092	0.92[ASN][1000 genomes]
rs6810390	0.90[ASN][1000 genomes]
rs6823229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852432	0.90[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	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6823230	TAPT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16150200-16160800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:16150800-16166600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:16151600-16158000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:16152000-16161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:16152000-16163800	Weak transcription	Thymus	Thymus
6	chr4:16152800-16159800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:16153000-16163600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:16153000-16164400	Weak transcription	NH-A	brain
9	chr4:16153200-16165200	Weak transcription	HSMM	muscle
10	chr4:16153400-16157200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:16153600-16165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:16154000-16159600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:16154400-16161600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:16154400-16163000	Weak transcription	Primary T cells from cord blood	blood
15	chr4:16154800-16161800	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:16154800-16164400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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