Variant report

Variant	rs9493308
Chromosome Location	chr6:132725606-132725607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr6:132725411-132726679	GM18505	blood:	n/a	n/a
2	STAT5A	chr6:132725442-132725882	GM12878	blood:	n/a	chr6:132725509-132725517
3	IKZF1	chr6:132725445-132725881	GM12878	blood:	n/a	n/a
4	ATF2	chr6:132725318-132726038	GM12878	blood:	n/a	n/a
5	MEF2C	chr6:132725365-132725820	GM12878	blood:	n/a	n/a
6	BATF	chr6:132725365-132726168	GM12878	blood:	n/a	n/a
7	NFIC	chr6:132725231-132726114	GM12878	blood:	n/a	n/a
8	FOXM1	chr6:132725350-132726115	GM12878	blood:	n/a	n/a
9	EP300	chr6:132725497-132726713	GM12878	blood:	n/a	chr6:132726613-132726627
10	NFATC1	chr6:132725406-132726126	GM12878	blood:	n/a	n/a
11	MEF2A	chr6:132725369-132725962	GM12878	blood:	n/a	n/a
12	MEF2A	chr6:132725272-132726814	GM12878	blood:	n/a	chr6:132726066-132726077
13	BATF	chr6:132725461-132726107	GM12878	blood:	n/a	n/a
14	RUNX3	chr6:132725313-132726036	GM12878	blood:	n/a	n/a
15	MTA3	chr6:132725229-132726779	GM12878	blood:	n/a	n/a
16	RELA	chr6:132725363-132726678	GM12891	blood:	n/a	n/a
17	STAT5A	chr6:132725364-132725876	GM12878	blood:	n/a	chr6:132725509-132725517
18	NFIC	chr6:132725198-132726813	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr6:132725332-132726786	GM12878	blood:	n/a	n/a
20	RUNX3	chr6:132725289-132726192	GM12878	blood:	n/a	n/a
21	FOXM1	chr6:132725266-132726810	GM12878	blood:	n/a	n/a
22	RELA	chr6:132725453-132726078	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MOXD1	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1000848	0.86[ASN][1000 genomes]
rs1000849	0.86[ASN][1000 genomes]
rs12660839	0.84[ASN][1000 genomes]
rs12663764	0.86[ASN][1000 genomes]
rs1338934	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1338936	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1338937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1338938	0.86[ASN][1000 genomes]
rs1538307	0.86[ASN][1000 genomes]
rs2153175	0.86[ASN][1000 genomes]
rs2185185	0.86[ASN][1000 genomes]
rs2211095	0.83[ASN][1000 genomes]
rs2327242	0.86[ASN][1000 genomes]
rs2327244	0.80[ASN][1000 genomes]
rs2876186	0.86[ASN][1000 genomes]
rs2876187	0.82[ASN][1000 genomes]
rs4377800	0.83[ASN][1000 genomes]
rs4489176	0.82[ASN][1000 genomes]
rs4515403	0.82[ASN][1000 genomes]
rs4529319	0.83[ASN][1000 genomes]
rs4897580	0.82[ASN][1000 genomes]
rs6569796	0.83[ASN][1000 genomes]
rs6901240	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6901661	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6901691	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6906574	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6921325	0.82[ASN][1000 genomes]
rs6922502	0.86[ASN][1000 genomes]
rs6923916	0.86[ASN][1000 genomes]
rs6929072	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6937815	0.82[ASN][1000 genomes]
rs6938427	0.82[ASN][1000 genomes]
rs6942368	0.82[ASN][1000 genomes]
rs73776207	0.83[ASN][1000 genomes]
rs7450274	0.86[ASN][1000 genomes]
rs7743007	0.86[ASN][1000 genomes]
rs7743456	0.86[ASN][1000 genomes]
rs7750935	0.83[ASN][1000 genomes]
rs7754992	0.82[ASN][1000 genomes]
rs7757469	0.83[ASN][1000 genomes]
rs7757641	0.83[ASN][1000 genomes]
rs7759787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770281	0.86[ASN][1000 genomes]
rs7770326	0.83[ASN][1000 genomes]
rs8180540	0.83[ASN][1000 genomes]
rs9375888	0.82[ASN][1000 genomes]
rs9385605	0.86[ASN][1000 genomes]
rs9388993	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388994	0.86[ASN][1000 genomes]
rs9388995	0.82[ASN][1000 genomes]
rs9399023	0.84[ASN][1000 genomes]
rs9399027	0.83[ASN][1000 genomes]
rs9402405	0.86[ASN][1000 genomes]
rs9483442	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9493309	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604668	chr6:132687248-132731358	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9493308	MOXD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132723400-132725800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:132723400-132726000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:132723400-132726000	Weak transcription	HSMM	muscle
4	chr6:132723400-132726600	Enhancers	NHDF-Ad	bronchial
5	chr6:132724200-132727800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:132724400-132726400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:132724600-132727000	Flanking Active TSS	GM12878-XiMat	blood
8	chr6:132724800-132726200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:132724800-132727600	Enhancers	Osteobl	bone
10	chr6:132725000-132727200	Enhancers	NHLF	lung
11	chr6:132725200-132727400	Enhancers	NH-A	brain
12	chr6:132725200-132734800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:132725400-132725800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr6:132725400-132727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:132725600-132725800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr6:132725600-132726000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:132725600-132726400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:132725600-132726800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:132725600-132727200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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