Variant report

Variant	rs60288112
Chromosome Location	chr9:18475993-18475994
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10511658	1.00[AMR][1000 genomes]
rs11999281	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001004	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12002126	1.00[AMR][1000 genomes]
rs12003118	1.00[AMR][1000 genomes]
rs12003267	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003900	1.00[AMR][1000 genomes]
rs12005242	1.00[AMR][1000 genomes]
rs16936711	1.00[AMR][1000 genomes]
rs16936775	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936815	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1856705	1.00[AMR][1000 genomes]
rs1888064	1.00[AMR][1000 genomes]
rs57153018	1.00[AMR][1000 genomes]
rs58068158	1.00[AMR][1000 genomes]
rs58526635	1.00[AMR][1000 genomes]
rs60199560	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60561389	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6475217	1.00[AMR][1000 genomes]
rs7019792	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7040544	1.00[AMR][1000 genomes]
rs73417101	1.00[AMR][1000 genomes]
rs73418922	1.00[AMR][1000 genomes]
rs73418924	1.00[AMR][1000 genomes]
rs73418940	1.00[AMR][1000 genomes]
rs73421011	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421013	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421023	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421030	1.00[AMR][1000 genomes]
rs73421031	1.00[AMR][1000 genomes]
rs73421035	1.00[AMR][1000 genomes]
rs870019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18473000-18476800	Flanking Active TSS	HUVEC	blood vessel
2	chr9:18473000-18478000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:18473200-18476400	Active TSS	NHLF	lung
4	chr9:18473200-18476800	Active TSS	NHDF-Ad	bronchial
5	chr9:18473200-18477800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:18473200-18477800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:18473400-18476000	Active TSS	Fetal Stomach	stomach
8	chr9:18473400-18476600	Active TSS	HSMMtube	muscle
9	chr9:18473600-18476200	Active TSS	NH-A	brain
10	chr9:18473800-18476200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:18473800-18477000	Active TSS	HSMM	muscle
12	chr9:18474000-18476200	Active TSS	Muscle Satellite Cultured Cells	--
13	chr9:18474200-18478800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:18474400-18477000	Weak transcription	Brain Substantia Nigra	brain
15	chr9:18474600-18477000	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:18474800-18477000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:18474800-18477200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:18474800-18478600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:18474800-18478800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:18474800-18480200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:18475000-18477000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:18475000-18477200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:18475000-18477200	Weak transcription	Brain Angular Gyrus	brain
24	chr9:18475000-18478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:18475200-18477000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:18475200-18477200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:18475200-18477400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:18475200-18477400	Weak transcription	Fetal Brain Female	brain
29	chr9:18475200-18478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:18475200-18484800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:18475400-18476400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:18475400-18476600	Weak transcription	Brain Germinal Matrix	brain
33	chr9:18475400-18477200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:18475400-18478600	Weak transcription	Aorta	Aorta
35	chr9:18475400-18479000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:18475400-18481600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:18475400-18482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:18475600-18476000	Weak transcription	Fetal Heart	heart
39	chr9:18475600-18477200	Flanking Active TSS	Osteobl	bone
40	chr9:18475800-18478600	Weak transcription	Fetal Muscle Leg	muscle

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