Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10490604	0.91[ASN][1000 genomes]
rs10930476	0.94[ASN][1000 genomes]
rs13384194	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476111	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17221346	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17221619	0.83[ASN][1000 genomes]
rs28742013	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4667689	0.92[ASN][1000 genomes]
rs55999882	0.89[ASN][1000 genomes]
rs58182652	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58267868	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183504	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62183537	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433291	0.89[ASN][1000 genomes]
rs6718740	0.88[ASN][1000 genomes]
rs6751956	0.88[ASN][1000 genomes]
rs7573183	0.83[ASN][1000 genomes]
rs7594714	0.91[ASN][1000 genomes]
rs7600478	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9789380	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62183540	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172338000-172349400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:172338400-172349800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:172339800-172350600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:172339800-172352200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:172340000-172351200	Weak transcription	Aorta	Aorta
6	chr2:172340000-172368400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:172346000-172353000	Weak transcription	Primary T cells from cord blood	blood
8	chr2:172348400-172349600	Weak transcription	Colonic Mucosa	Colon
9	chr2:172348600-172349800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:172348600-172351000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:172348600-172355000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:172349000-172349600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:172349200-172349800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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