Variant report

Variant	rs12553147
Chromosome Location	chr9:18543598-18543599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10756968	0.86[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.93[ASN][1000 genomes]
rs10756969	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10756970	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs10756973	0.86[ASN][1000 genomes]
rs10756974	0.84[ASN][1000 genomes]
rs10756975	0.85[JPT][hapmap]
rs10810982	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10810984	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.80[TSI][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10810985	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10810986	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10810987	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10810988	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs10810989	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10963627	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10963639	0.82[JPT][hapmap]
rs12345096	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12345939	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12685259	0.83[ASN][1000 genomes]
rs13290343	0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs13292240	0.85[JPT][hapmap]
rs1341062	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1341066	0.85[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.98[ASN][1000 genomes]
rs1928535	0.85[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs35116229	0.99[ASN][1000 genomes]
rs35669972	0.99[ASN][1000 genomes]
rs3739569	0.82[JPT][hapmap]
rs6475226	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6475228	0.81[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7022259	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7027894	0.93[ASN][1000 genomes]
rs7039094	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7042143	0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs7042159	0.95[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.91[ASN][1000 genomes]
rs7466047	0.85[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs7466067	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs951226	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv892690	chr9:18485434-18592374	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv428536	chr9:18512807-18667760	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv892693	chr9:18541710-18584860	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18538800-18543800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:18539400-18545000	Weak transcription	Fetal Heart	heart
3	chr9:18541600-18546800	Enhancers	Osteobl	bone
4	chr9:18542200-18544600	Enhancers	HUVEC	blood vessel
5	chr9:18542200-18546200	Enhancers	NH-A	brain
6	chr9:18542400-18545400	Enhancers	NHLF	lung
7	chr9:18542400-18546400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:18542600-18543600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr9:18542600-18543600	Enhancers	Fetal Stomach	stomach
10	chr9:18542600-18546200	Enhancers	HMEC	breast
11	chr9:18542800-18543600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:18542800-18544000	Enhancers	Brain Hippocampus Middle	brain
13	chr9:18542800-18544200	Enhancers	Colon Smooth Muscle	Colon
14	chr9:18542800-18544400	Enhancers	Fetal Lung	lung
15	chr9:18542800-18544800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:18542800-18544800	Enhancers	NHEK	skin
17	chr9:18542800-18545400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:18542800-18546000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:18542800-18546000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:18543000-18544200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:18543200-18545000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:18543400-18543600	Flanking Active TSS	NHDF-Ad	bronchial
23	chr9:18543400-18543800	Weak transcription	Brain Substantia Nigra	brain
24	chr9:18543400-18544000	Enhancers	HSMMtube	muscle
25	chr9:18543400-18544200	Enhancers	HSMM	muscle
26	chr9:18543400-18545600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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