Variant report

Variant	rs12795467
Chromosome Location	chr11:102598503-102598504
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	JUN	chr11:102598467-102599046	HUVEC	blood vessel:	n/a	chr11:102598850-102598859
2	SPI1	chr11:102598466-102598992	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
MMP8	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12785370	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12785526	0.84[EUR][1000 genomes]
rs12787514	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12788190	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12789176	0.84[EUR][1000 genomes]
rs12793228	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12794384	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12802760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12803000	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12803521	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12804795	0.84[EUR][1000 genomes]
rs17099425	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17099427	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17099450	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28478243	0.93[EUR][1000 genomes]
rs28662184	0.97[EUR][1000 genomes]
rs33927742	0.93[EUR][1000 genomes]
rs33982701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34430514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34472552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34748528	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34802753	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34832307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34968631	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35866072	0.93[EUR][1000 genomes]
rs4121361	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57603637	0.84[EUR][1000 genomes]
rs71478596	0.82[AMR][1000 genomes];0.93[EUR][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	nsv832252	chr11:102445479-102627879	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1037454	chr11:102487521-102601233	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541156	chr11:102487521-102601233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102593600-102598800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:102596400-102601000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:102597200-102599400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:102597600-102599600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:102597800-102598600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:102598000-102598600	Enhancers	Primary B cells from cord blood	blood
7	chr11:102598200-102598800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:102598200-102599000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr11:102598200-102599600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:102598200-102599600	Enhancers	NHEK	skin
11	chr11:102598200-102600000	Enhancers	HMEC	breast
12	chr11:102598200-102600000	Enhancers	NHLF	lung
13	chr11:102598200-102601400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:102598200-102601600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:102598200-102602000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:102598200-102602000	Enhancers	HUVEC	blood vessel
17	chr11:102598400-102598800	Enhancers	Fetal Stomach	stomach
18	chr11:102598400-102599400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:102598400-102599400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:102598400-102600600	Enhancers	NHDF-Ad	bronchial

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