Variant report

Variant	rs71276077
Chromosome Location	chr6:26849098-26849099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13195977	0.95[AMR][1000 genomes]
rs6912917	0.88[ASN][1000 genomes]
rs71557351	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs71557352	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71557353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7770722	0.87[ASN][1000 genomes]
rs9348739	0.86[AMR][1000 genomes]
rs9366673	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases
15	esv1848024	chr6:26828650-26946902	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv1801757	chr6:26832007-26947622	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv1811667	chr6:26832470-26972169	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv469610	chr6:26841083-26999230	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv482509	chr6:26841083-26999230	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv471636	chr6:26841084-27038175	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
21	esv1793474	chr6:26843757-26969314	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	esv19090	chr6:26843813-26983456	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv965692	chr6:26844272-26857981	Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
24	esv1802700	chr6:26846631-26964612	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv469675	chr6:26848950-27015598	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv482429	chr6:26848950-27015598	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs71276077	BTN3A2	cis	Skin Sun Exposed Lower leg	GTEx
rs71276077	BTN3A2	cis	Esophagus Muscularis	GTEx
rs71276077	BTN3A2	cis	Muscle Skeletal	GTEx
rs71276077	BTN3A2	cis	Esophagus Mucosa	GTEx
rs71276077	BTN3A2	cis	Nerve Tibial	GTEx
rs71276077	BTN3A2	cis	lung	GTEx
rs71276077	BTN3A2	cis	Whole Blood	GTEx
rs71276077	BTN3A2	cis	Thyroid	GTEx
rs71276077	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs71276077	BTN3A2	cis	Artery Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26838000-26866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:26838400-26853400	Weak transcription	Adipose Nuclei	Adipose
3	chr6:26838800-26857600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:26839000-26850600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:26841400-26866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:26844400-26849800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:26844400-26849800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:26844400-26854200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:26844400-26854800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:26844400-26856000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:26844400-26865800	Weak transcription	Ovary	ovary
12	chr6:26844400-26872000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:26844600-26853200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:26844600-26853800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:26844600-26857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:26844800-26857800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:26845000-26853400	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:26845000-26864200	Weak transcription	Pancreas	Pancrea
19	chr6:26845200-26851600	Weak transcription	Gastric	stomach
20	chr6:26845400-26853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:26846200-26849600	Weak transcription	Spleen	Spleen
22	chr6:26847600-26852800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:26847600-26853400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:26847600-26854200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:26848400-26854800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:26848400-26854800	Weak transcription	Lung	lung
27	chr6:26848600-26852600	Strong transcription	Fetal Stomach	stomach
28	chr6:26848800-26850000	Strong transcription	Liver	Liver
29	chr6:26848800-26851400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:26849000-26849400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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