Variant report

Variant	rs34273322
Chromosome Location	chr6:26415409-26415410
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26414624..26416955-chr6:26417955..26421262,4	K562	blood:
2	chr6:26409193..26411903-chr6:26413295..26416359,4	K562	blood:
3	chr6:26370686..26374896-chr6:26414098..26416204,3	K562	blood:
4	chr6:26412319..26417461-chr6:26417955..26421943,9	K562	blood:
5	chr6:26340033..26342028-chr6:26415409..26417011,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000026950	Chromatin interaction
ENSG00000186470	Chromatin interaction
ENSG00000124549	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs12173854	0.87[EUR][1000 genomes]
rs12174602	0.87[EUR][1000 genomes]
rs12174623	0.87[EUR][1000 genomes]
rs12174631	0.87[EUR][1000 genomes]
rs12174639	0.87[EUR][1000 genomes]
rs12176129	0.86[EUR][1000 genomes]
rs12176317	0.87[EUR][1000 genomes]
rs13191660	0.87[EUR][1000 genomes]
rs13216828	0.87[EUR][1000 genomes]
rs13220495	0.81[AMR][1000 genomes]
rs13220522	0.81[AMR][1000 genomes]
rs16891725	0.90[EUR][1000 genomes]
rs1977	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1978	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1979	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2072803	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2072806	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2073527	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2073529	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2073530	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2073531	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2076030	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295593	0.86[EUR][1000 genomes]
rs2393667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362606	0.86[EUR][1000 genomes]
rs28551159	0.87[EUR][1000 genomes]
rs3047288	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34107459	0.81[AMR][1000 genomes]
rs34436535	0.87[EUR][1000 genomes]
rs34550936	0.87[EUR][1000 genomes]
rs34622023	0.87[EUR][1000 genomes]
rs34878490	0.87[EUR][1000 genomes]
rs35304979	0.87[EUR][1000 genomes]
rs35307327	0.87[EUR][1000 genomes]
rs35934643	0.87[EUR][1000 genomes]
rs35942482	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3757138	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3799383	0.86[EUR][1000 genomes]
rs41266839	0.81[AMR][1000 genomes]
rs55706012	0.81[AMR][1000 genomes]
rs66823108	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs67234939	0.86[EUR][1000 genomes]
rs67509210	0.87[EUR][1000 genomes]
rs68072215	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6900665	0.83[EUR][1000 genomes]
rs6920256	0.81[EUR][1000 genomes]
rs71544290	0.87[EUR][1000 genomes]
rs71557332	0.85[EUR][1000 genomes]
rs71557334	0.87[EUR][1000 genomes]
rs71557335	0.87[EUR][1000 genomes]
rs72836482	0.87[EUR][1000 genomes]
rs72841536	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9348709	0.87[EUR][1000 genomes]
rs9348712	0.87[EUR][1000 genomes]
rs9348716	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9348721	0.83[EUR][1000 genomes]
rs9357006	0.87[EUR][1000 genomes]
rs9358930	0.87[EUR][1000 genomes]
rs9358932	0.87[EUR][1000 genomes]
rs9358934	0.87[EUR][1000 genomes]
rs9358935	0.87[EUR][1000 genomes]
rs9358937	0.87[EUR][1000 genomes]
rs9358938	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9358939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366653	0.87[EUR][1000 genomes]
rs9366654	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9366655	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs9366656	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9379851	0.87[EUR][1000 genomes]
rs9379852	0.87[EUR][1000 genomes]
rs9379853	0.87[EUR][1000 genomes]
rs9379854	0.87[EUR][1000 genomes]
rs9379855	0.87[EUR][1000 genomes]
rs9379856	0.87[EUR][1000 genomes]
rs9379857	0.87[EUR][1000 genomes]
rs9379858	0.87[EUR][1000 genomes]
rs9379859	0.87[EUR][1000 genomes]
rs9379863	0.87[EUR][1000 genomes]
rs9379864	0.87[EUR][1000 genomes]
rs9379871	0.87[EUR][1000 genomes]
rs9379873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9379875	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9379882	0.86[EUR][1000 genomes]
rs9393703	0.87[EUR][1000 genomes]
rs9393704	0.87[EUR][1000 genomes]
rs9393705	0.87[EUR][1000 genomes]
rs9393706	0.87[EUR][1000 genomes]
rs9393707	0.87[EUR][1000 genomes]
rs9393708	0.87[EUR][1000 genomes]
rs9393710	0.87[EUR][1000 genomes]
rs9393711	0.87[EUR][1000 genomes]
rs9393712	0.87[EUR][1000 genomes]
rs9393713	0.87[EUR][1000 genomes]
rs9393714	0.87[EUR][1000 genomes]
rs9393715	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9393718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393721	0.82[ASN][1000 genomes]
rs9393727	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv883492	chr6:26367689-26436592	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv883493	chr6:26367689-26442786	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv883494	chr6:26367833-26442786	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv883495	chr6:26367833-26443853	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv3334611	chr6:26367893-26443308	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
12	nsv883497	chr6:26369549-26442786	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv883498	chr6:26369549-26443853	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv883499	chr6:26377591-26454454	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	esv3427999	chr6:26378373-26453532	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
16	nsv462664	chr6:26379537-26451553	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv601184	chr6:26379537-26451553	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs34273322	BTN3A2	cis	Esophagus Mucosa	GTEx
rs34273322	BTN3A2	cis	Muscle Skeletal	GTEx
rs34273322	BTN3A2	cis	Whole Blood	GTEx
rs34273322	BTN3A1	Cis_1M	lymphoblastoid	RTeQTL
rs34273322	BTN3A2	cis	Nerve Tibial	GTEx
rs34273322	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL
rs34273322	BTN3A2	cis	Artery Aorta	GTEx
rs34273322	BTN3A2	cis	Artery Tibial	GTEx
rs34273322	BTN3A2	cis	lung	GTEx
rs34273322	BTN3A2	cis	Thyroid	GTEx
rs34273322	BTN3A2	cis	Stomach	GTEx
rs34273322	BTN3A2	cis	Esophagus Muscularis	GTEx
rs34273322	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL
rs34273322	BTN3A2	cis	Skin Sun Exposed Lower leg	GTEx
rs34273322	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs34273322	BTN3A2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26403000-26421200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:26403000-26421200	Weak transcription	Right Ventricle	heart
3	chr6:26403200-26415600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:26403200-26420200	Weak transcription	HSMMtube	muscle
5	chr6:26403200-26421000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:26403200-26421000	Weak transcription	NHDF-Ad	bronchial
7	chr6:26403400-26418200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:26403400-26418200	Weak transcription	Brain Germinal Matrix	brain
9	chr6:26403400-26421000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:26403400-26421000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:26403400-26421000	Weak transcription	Right Atrium	heart
12	chr6:26403600-26421200	Weak transcription	Psoas Muscle	Psoas
13	chr6:26405200-26421000	Weak transcription	Stomach Mucosa	stomach
14	chr6:26405600-26415800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:26405800-26421200	Weak transcription	Small Intestine	intestine
16	chr6:26407000-26420400	Weak transcription	Fetal Brain Male	brain
17	chr6:26407800-26420600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:26407800-26420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:26407800-26420600	Weak transcription	Fetal Kidney	kidney
20	chr6:26407800-26420800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:26408000-26421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:26408200-26420200	Weak transcription	Pancreas	Pancrea
23	chr6:26409200-26415600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:26410000-26420200	Weak transcription	Aorta	Aorta
25	chr6:26410200-26417800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr6:26410800-26420600	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:26411800-26416200	Weak transcription	Placenta	Placenta
28	chr6:26412000-26421000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:26412200-26420600	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:26412200-26421000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:26412400-26416800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:26412400-26421000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:26412600-26415600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:26412600-26420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:26412600-26420800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:26412600-26421000	Weak transcription	Osteobl	bone
37	chr6:26412800-26421000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:26412800-26421000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:26413000-26421000	Weak transcription	Ovary	ovary
40	chr6:26413200-26420800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr6:26413200-26421000	Weak transcription	Colonic Mucosa	Colon
42	chr6:26413600-26415800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:26413600-26417600	Weak transcription	Fetal Lung	lung
44	chr6:26413600-26418200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:26413600-26420400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:26413600-26421600	Weak transcription	Gastric	stomach
47	chr6:26413800-26416400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:26413800-26416600	Weak transcription	Primary B cells from cord blood	blood
49	chr6:26413800-26416800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:26413800-26420200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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