Variant report

Variant	rs9467714
Chromosome Location	chr6:26340785-26340786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26340033..26342028-chr6:26415409..26417011,2	MCF-7	breast:
2	chr6:26340332..26342039-chr6:26569832..26571583,2	K562	blood:
3	chr6:26338939..26342494-chr6:26519686..26522747,3	K562	blood:
4	chr6:26339658..26342406-chr6:26483476..26486207,2	K562	blood:
5	chr6:26340224..26342444-chr6:26572464..26573981,2	K562	blood:
6	chr6:26339701..26341398-chr6:26520841..26522748,2	MCF-7	breast:
7	chr6:26338579..26343405-chr6:26519686..26522615,5	K562	blood:
8	chr6:26339036..26342767-chr6:26596200..26598139,3	K562	blood:
9	chr6:26340367..26342068-chr6:26565730..26567496,2	K562	blood:
10	chr6:26272455..26274796-chr6:26340559..26343243,3	MCF-7	breast:
11	chr6:26340224..26344158-chr6:26569567..26573981,6	K562	blood:
12	chr6:26339310..26342101-chr6:26554337..26555953,2	K562	blood:
13	chr6:26304711..26307029-chr6:26338839..26340987,2	MCF-7	breast:
14	chr6:26340127..26342724-chr6:26570668..26572890,2	MCF-7	breast:
15	chr6:26336805..26339023-chr6:26339169..26341807,3	MCF-7	breast:
16	chr6:26340614..26342213-chr6:26550720..26552761,2	K562	blood:
17	chr6:26338721..26340808-chr6:27098381..27100563,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146109	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000218690	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10484439	0.83[CEU][hapmap]
rs11966360	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs13220495	0.83[CEU][hapmap]
rs17598658	0.83[CEU][hapmap]
rs9467704	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
7	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
8	nsv5230	chr6:26321593-26361531	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv3521788	chr6:26334022-26356973	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3521789	chr6:26334022-26356973	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs9467714	BTN3A2	cis	Whole Blood	GTEx
rs9467714	BTN3A2	cis	Esophagus Mucosa	GTEx
rs9467714	BTN3A2	cis	Artery Tibial	GTEx
rs9467714	BTN3A2	cis	uninvolved skin	skin_eQTL
rs9467714	BTN3A2	cis	Skin Sun Exposed Lower leg	GTEx
rs9467714	BTN3A2	cis	Thyroid	GTEx
rs9467714	BTN3A3	cis	lymphoblastoid	seeQTL
rs9467714	BTN3A2	cis	lymphoblastoid	seeQTL
rs9467714	BTN3A1	cis	lymphoblastoid	seeQTL
rs9467714	BTN3A2	cis	Esophagus Muscularis	GTEx
rs9467714	BTN3A2	cis	Muscle Skeletal	GTEx
rs9467714	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs9467714	BTN3A2	cis	lymphoblastoid	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26333000-26341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:26333000-26342200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:26336200-26341800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:26337000-26341400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:26337000-26341600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:26337000-26342000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:26337200-26342000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:26337200-26342000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:26337200-26342000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:26337400-26341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:26337400-26341200	Weak transcription	GM12878-XiMat	blood
12	chr6:26337400-26341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:26337400-26341600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:26337400-26341600	Weak transcription	Dnd41	blood
15	chr6:26337400-26341800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:26337400-26341800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:26337400-26341800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:26337400-26342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:26337400-26342000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:26337400-26342200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:26337400-26342200	Weak transcription	NHDF-Ad	bronchial
22	chr6:26337600-26341400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:26337600-26341400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:26337600-26341400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:26337600-26341400	Weak transcription	Hela-S3	cervix
26	chr6:26337600-26341800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:26337600-26341800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:26337600-26342200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:26337600-26342200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:26337600-26342200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:26337600-26342200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:26337600-26342200	Weak transcription	HUVEC	blood vessel
33	chr6:26337600-26342200	Enhancers	K562	blood
34	chr6:26337600-26342200	Weak transcription	NHEK	skin
35	chr6:26337600-26342200	Weak transcription	NHLF	lung
36	chr6:26337800-26342200	Weak transcription	HMEC	breast
37	chr6:26339600-26341600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:26340000-26341200	Weak transcription	HepG2	liver
39	chr6:26340200-26342000	Weak transcription	NH-A	brain
40	chr6:26340600-26341600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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