Variant report

Variant	rs72690578
Chromosome Location	chr9:18798893-18798894
allele	A/T
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:18)

rs_ID	r²[population]
rs10811036	0.83[EUR][1000 genomes]
rs2289004	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289006	0.86[ASN][1000 genomes]
rs2289007	0.83[ASN][1000 genomes]
rs41268983	0.86[ASN][1000 genomes]
rs45579937	0.83[ASN][1000 genomes]
rs4977432	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4977440	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4977443	0.83[ASN][1000 genomes]
rs55845470	0.90[ASN][1000 genomes]
rs56235899	0.86[ASN][1000 genomes]
rs715212	0.90[ASN][1000 genomes]
rs72690557	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690558	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72690561	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690565	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72690567	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72690576	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][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	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18778400-18817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:18788000-18799000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:18788000-18825200	Weak transcription	HUVEC	blood vessel
4	chr9:18788800-18806200	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:18791200-18803200	Strong transcription	NH-A	brain
6	chr9:18793600-18805000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:18795000-18801200	Genic enhancers	HSMM	muscle
8	chr9:18795200-18800000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:18795200-18800000	Genic enhancers	NHDF-Ad	bronchial
10	chr9:18796000-18800200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:18796600-18799800	Weak transcription	NHLF	lung
12	chr9:18796800-18817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:18797000-18803200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:18797600-18799000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:18797600-18802000	Weak transcription	Fetal Stomach	stomach
16	chr9:18798000-18799000	Enhancers	Brain Substantia Nigra	brain
17	chr9:18798000-18799200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:18798200-18799600	Enhancers	HSMMtube	muscle
19	chr9:18798200-18799600	Genic enhancers	Osteobl	bone
20	chr9:18798200-18800200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr9:18798200-18801000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:18798400-18799600	Enhancers	Brain Hippocampus Middle	brain
23	chr9:18798600-18799200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:18798600-18799200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:18798600-18799200	Enhancers	Fetal Brain Female	brain
26	chr9:18798800-18799400	Enhancers	Stomach Smooth Muscle	stomach
27	chr9:18798800-18799600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:18798800-18800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:18798800-18800800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:18798800-18811200	Weak transcription	Aorta	Aorta

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