Variant report

Variant	rs34351439
Chromosome Location	chr6:25833010-25833011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr6:25831682-25833103	HepG2	liver:	n/a	n/a
2	NFIC	chr6:25832998-25833896	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SLC17A1	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13195279	0.86[AMR][1000 genomes]
rs13199775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200921	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201341	0.84[EUR][1000 genomes]
rs13207673	0.86[AMR][1000 genomes]
rs13213957	0.81[EUR][1000 genomes]
rs13220488	0.86[AMR][1000 genomes]
rs1892250	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892251	0.90[ASN][1000 genomes]
rs1892253	0.90[ASN][1000 genomes]
rs1937126	0.90[ASN][1000 genomes]
rs1954598	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28412066	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35169013	0.86[AMR][1000 genomes]
rs35436081	0.90[ASN][1000 genomes]
rs3949215	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236040	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4712969	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456701	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67554133	1.00[AMR][1000 genomes]
rs68194335	1.00[AMR][1000 genomes]
rs6902211	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910549	0.90[ASN][1000 genomes]
rs6913795	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6940698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461216	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467600	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467603	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467606	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467607	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467609	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9467613	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467621	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467622	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467623	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467626	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467632	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv427747	chr6:25641380-25908218	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs34351439	BTN3A2	cis	Whole Blood	GTEx
rs34351439	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs34351439	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL
rs34351439	BTN3A2	cis	Esophagus Muscularis	GTEx
rs34351439	BTN3A2	cis	Muscle Skeletal	GTEx
rs34351439	BTN3A2	cis	Skin Sun Exposed Lower leg	GTEx
rs34351439	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25831200-25833200	Enhancers	Fetal Intestine Small	intestine
2	chr6:25831400-25833200	Flanking Active TSS	HepG2	liver
3	chr6:25831800-25833800	Enhancers	Fetal Intestine Large	intestine
4	chr6:25832400-25834200	Enhancers	Liver	Liver
5	chr6:25832800-25833200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr6:25833000-25834000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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