Variant report

Variant	rs9368445
Chromosome Location	chr6:26642305-26642306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26641377..26644016-chr6:26648888..26650401,2	K562	blood:
2	chr6:26640152..26642957-chr6:26643497..26647003,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11967852	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13195210	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13208916	0.83[ASN][1000 genomes]
rs13210025	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13215020	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28360517	0.83[ASN][1000 genomes]
rs3999471	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4634439	0.83[ASN][1000 genomes]
rs6936555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740197	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7759969	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9295702	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348726	0.83[ASN][1000 genomes]
rs9348728	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368443	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368447	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368448	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368450	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368451	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9379893	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9379895	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9379897	0.83[ASN][1000 genomes]
rs9379899	0.83[ASN][1000 genomes]
rs9379901	0.83[ASN][1000 genomes]
rs9379905	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9379907	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9393737	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9393739	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9368445	BTN3A2	Cis_1M	lymphoblastoid	RTeQTL
rs9368445	BTN2A1	Cis_1M	lymphoblastoid	RTeQTL
rs9368445	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs9368445	BTN3A2	cis	lung	GTEx
rs9368445	BTN3A2	cis	Whole Blood	GTEx
rs9368445	BTN3A2///BTN3A3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26633000-26658000	Weak transcription	Fetal Brain Male	brain
2	chr6:26636400-26645800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:26636800-26645800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr6:26637600-26645800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:26638000-26645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:26638400-26643600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:26638400-26644800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:26638400-26646800	ZNF genes & repeats	Liver	Liver
9	chr6:26638800-26642600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr6:26638800-26644400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
11	chr6:26638800-26644800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:26638800-26645400	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr6:26638800-26645600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:26638800-26646600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:26638800-26646800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:26638800-26646800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:26639000-26643400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:26639000-26643800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:26639000-26644200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:26639000-26644200	ZNF genes & repeats	NHEK	skin
21	chr6:26639000-26644600	Strong transcription	Placenta	Placenta
22	chr6:26639000-26644600	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr6:26639000-26644800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr6:26639000-26644800	Strong transcription	Dnd41	blood
25	chr6:26639000-26645000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr6:26639000-26645000	ZNF genes & repeats	HMEC	breast
27	chr6:26639000-26645200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
28	chr6:26639000-26645600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr6:26639000-26645600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:26639000-26645800	ZNF genes & repeats	GM12878-XiMat	blood
31	chr6:26639000-26646600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:26639000-26651800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:26639200-26643200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:26639200-26643200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
35	chr6:26639200-26643600	Strong transcription	Rectal Smooth Muscle	rectum
36	chr6:26639200-26644800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:26639200-26644800	ZNF genes & repeats	NHDF-Ad	bronchial
38	chr6:26639200-26645600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:26639400-26644600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:26639600-26642800	Strong transcription	Brain Cingulate Gyrus	brain
41	chr6:26639600-26643800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:26639800-26643400	Strong transcription	Ovary	ovary
43	chr6:26639800-26643800	Strong transcription	Fetal Brain Female	brain
44	chr6:26639800-26644400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:26640000-26643400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:26640000-26643400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr6:26640000-26643400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:26640000-26643400	ZNF genes & repeats	Spleen	Spleen
49	chr6:26640000-26643600	Strong transcription	Brain Germinal Matrix	brain
50	chr6:26640000-26643800	Strong transcription	Stomach Smooth Muscle	stomach

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