Variant report

Variant	rs72692468
Chromosome Location	chr9:18893271-18893272
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10963824	1.00[ASN][1000 genomes]
rs10963839	1.00[AMR][1000 genomes]
rs12003911	1.00[ASN][1000 genomes]
rs12004183	1.00[ASN][1000 genomes]
rs12005219	0.86[ASN][1000 genomes]
rs34119945	1.00[AMR][1000 genomes]
rs6475261	1.00[AMR][1000 genomes]
rs7034036	1.00[AMR][1000 genomes]
rs72692472	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72692474	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72692492	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73644677	1.00[AMR][1000 genomes]
rs73644678	1.00[AMR][1000 genomes]
rs73644679	1.00[AMR][1000 genomes]
rs7848851	0.86[ASN][1000 genomes]
rs7859732	0.86[ASN][1000 genomes]
rs7870216	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892698	chr9:18830444-18905289	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18878600-18895600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:18885800-18896400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:18888600-18894600	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:18888600-18896400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:18888800-18895400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:18889000-18893400	Weak transcription	Fetal Intestine Small	intestine
7	chr9:18889200-18901200	Weak transcription	Colonic Mucosa	Colon
8	chr9:18889800-18896400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:18890200-18893600	Enhancers	Hela-S3	cervix
10	chr9:18890400-18895200	Weak transcription	NHLF	lung
11	chr9:18890600-18893400	Strong transcription	Fetal Stomach	stomach
12	chr9:18890600-18895400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:18891000-18893400	Strong transcription	Aorta	Aorta
14	chr9:18891000-18894600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:18891000-18894800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:18891200-18893600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:18891200-18893600	Strong transcription	Fetal Muscle Leg	muscle
18	chr9:18891200-18893600	Strong transcription	HSMMtube	muscle
19	chr9:18891200-18895400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:18891200-18895400	Strong transcription	HSMM	muscle
21	chr9:18891200-18895400	Strong transcription	NHDF-Ad	bronchial
22	chr9:18891200-18898800	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr9:18891600-18894400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:18892400-18893400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr9:18892600-18894000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:18892800-18893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:18893000-18893400	Genic enhancers	Fetal Heart	heart
28	chr9:18893000-18893600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr9:18893000-18893800	Weak transcription	Adipose Nuclei	Adipose
30	chr9:18893000-18893800	Genic enhancers	Osteobl	bone
31	chr9:18893200-18893800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr9:18893200-18894000	Genic enhancers	NH-A	brain

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