Variant report

Variant	rs4339146
Chromosome Location	chr3:160780272-160780273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160778138..160780408-chr3:160781203..160783846,3	MCF-7	breast:
2	chr3:160778095..160780488-chr3:160782527..160784697,2	K562	blood:
3	chr3:160485944..160487804-chr3:160779253..160781559,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1045448	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12107243	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12488621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494133	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13319969	0.86[EUR][1000 genomes]
rs1599380	0.86[EUR][1000 genomes]
rs1599384	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16831868	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1947686	0.86[EUR][1000 genomes]
rs2231252	0.86[EUR][1000 genomes]
rs2279106	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28623696	0.95[EUR][1000 genomes]
rs35440670	0.86[EUR][1000 genomes]
rs35599916	0.86[EUR][1000 genomes]
rs4443220	0.86[EUR][1000 genomes]
rs4465984	0.86[EUR][1000 genomes]
rs6441352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441353	0.86[EUR][1000 genomes]
rs6763838	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6795977	0.84[EUR][1000 genomes]
rs68159406	0.86[EUR][1000 genomes]
rs721657	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7429731	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7630896	0.86[EUR][1000 genomes]
rs7634115	0.86[EUR][1000 genomes]
rs7649954	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs898683	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898684	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898685	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9813136	0.81[EUR][1000 genomes]
rs9824308	0.85[EUR][1000 genomes]
rs9829882	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9830139	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9834751	0.86[EUR][1000 genomes]
rs9840389	0.87[EUR][1000 genomes]
rs9851292	0.82[EUR][1000 genomes]
rs9861850	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9864145	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4339146	B3GALNT1	cis	Artery Tibial	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160745200-160782600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:160768000-160786400	Weak transcription	Left Ventricle	heart
3	chr3:160771000-160783200	Weak transcription	Fetal Brain Female	brain
4	chr3:160772000-160784200	Weak transcription	Primary B cells from cord blood	blood
5	chr3:160773200-160786800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:160773600-160785600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:160773800-160787200	Weak transcription	Gastric	stomach
8	chr3:160775800-160782600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:160776000-160787200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:160777200-160787800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:160778200-160782600	Weak transcription	Esophagus	oesophagus
12	chr3:160778200-160786400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:160778400-160780600	Weak transcription	Fetal Brain Male	brain
14	chr3:160779200-160785200	Weak transcription	Aorta	Aorta

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