Variant report

Variant	rs72763147
Chromosome Location	chr9:118400402-118400403
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56315449	1.00[EUR][1000 genomes]
rs66718915	0.86[EUR][1000 genomes]
rs72753693	0.86[EUR][1000 genomes]
rs72755356	0.86[EUR][1000 genomes]
rs72755361	0.86[EUR][1000 genomes]
rs72755370	0.86[EUR][1000 genomes]
rs72755396	0.86[EUR][1000 genomes]
rs72755398	0.86[EUR][1000 genomes]
rs72757305	0.86[EUR][1000 genomes]
rs72757377	1.00[EUR][1000 genomes]
rs72763138	1.00[EUR][1000 genomes]
rs72763139	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72763145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72763146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72763150	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72763152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72763153	1.00[EUR][1000 genomes]
rs72763154	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73516432	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv831698	chr9:118284259-118446456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1047164	chr9:118286742-118456851	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118395800-118402800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:118395800-118403000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:118399200-118401200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:118399200-118401200	Enhancers	NHDF-Ad	bronchial
5	chr9:118399400-118401200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:118399400-118402800	Weak transcription	HMEC	breast
7	chr9:118399600-118402800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:118399800-118400600	Enhancers	NHLF	lung
9	chr9:118399800-118402800	Weak transcription	NHEK	skin
10	chr9:118400000-118400600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:118400000-118401200	Enhancers	Osteobl	bone
12	chr9:118400000-118401400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:118400200-118401200	Enhancers	HSMMtube	muscle
14	chr9:118400200-118401400	Enhancers	HSMM	muscle
15	chr9:118400400-118400600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:118400400-118401000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:118400400-118404000	Weak transcription	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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