Variant report

Variant	rs7454868
Chromosome Location	chr6:26799828-26799829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34244947	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1033432	chr6:26695219-26799954	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv471635	chr6:26695219-26815967	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1017997	chr6:26695219-26823548	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv2763937	chr6:26695219-26962934	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1800247	chr6:26695219-26970551	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2758038	chr6:26695219-27095714	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
8	esv2759410	chr6:26695219-27095714	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
9	esv2757158	chr6:26698480-26896889	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv33111	chr6:26703066-26946931	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv883500	chr6:26706544-26922906	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1810678	chr6:26718934-26946902	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv1830610	chr6:26725354-26945518	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1022554	chr6:26728628-26799954	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv1022101	chr6:26728628-26813078	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv1029020	chr6:26737020-26813078	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv883503	chr6:26781595-26915326	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv883504	chr6:26781595-26942027	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv830615	chr6:26789983-26922221	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv3420335	chr6:26796373-26801171	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
21	esv3432636	chr6:26797273-26800471	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
22	nsv969362	chr6:26798043-26814715	ZNF genes & repeats Strong transcription Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs7454868	BTN3A2	cis	Esophagus Muscularis	GTEx
rs7454868	BTN3A2	cis	Artery Tibial	GTEx
rs7454868	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs7454868	BTN3A2	cis	Whole Blood	GTEx
rs7454868	BTN3A2	cis	cerebellar cortex	BrainEAC
rs7454868	BTN3A2	cis	Heart Left Ventricle	GTEx
rs7454868	HFE	cis	brain	BrainEAC
rs7454868	BTN3A2	cis	Esophagus Mucosa	GTEx
rs7454868	BTN3A2	cis	lung	GTEx
rs7454868	BTN3A2	cis	thalamus	BrainEAC
rs7454868	BTN3A2	cis	Skin Sun Exposed Lower leg	GTEx
rs7454868	BTN3A2	cis	brain	BrainEAC
rs7454868	BTN3A2	cis	Muscle Skeletal	GTEx
rs7454868	BTN3A2	cis	Thyroid	GTEx
rs7454868	BTN3A2	cis	Nerve Tibial	GTEx
rs7454868	BTN3A2	cis	temporal cortex	BrainEAC
rs7454868	BTN3A2,BTN3A1	cis	brain	BrainEAC

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26797600-26807600	Weak transcription	Ovary	ovary
2	chr6:26797800-26800000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:26797800-26800200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:26797800-26800200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:26798000-26800400	Weak transcription	Primary T cells from cord blood	blood
6	chr6:26799200-26800800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:26799200-26800800	Weak transcription	Liver	Liver
8	chr6:26799200-26800800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:26799200-26801000	Weak transcription	Aorta	Aorta
10	chr6:26799400-26801000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:26799400-26801000	Weak transcription	Brain Anterior Caudate	brain

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