Variant report

Variant	rs12345448
Chromosome Location	chr9:72588197-72588198
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1013272	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10156645	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032414	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511977	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140833	0.80[EUR][1000 genomes]
rs11140862	0.80[EUR][1000 genomes]
rs11140864	0.80[EUR][1000 genomes]
rs11140986	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141038	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141039	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141040	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141043	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11141049	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335359	0.80[EUR][1000 genomes]
rs12339764	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340850	1.00[ASN][1000 genomes]
rs12342567	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342648	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342964	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343759	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343851	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344385	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347023	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347970	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12349644	1.00[ASN][1000 genomes]
rs12350185	0.85[EUR][1000 genomes]
rs12350231	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352875	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948427	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28799079	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637911	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708059	0.85[EUR][1000 genomes]
rs55833239	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57482063	0.85[EUR][1000 genomes]
rs59269830	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709145	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709155	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709188	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725226	0.80[EUR][1000 genomes]
rs72725252	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725262	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725264	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853925	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1035668	chr9:72555053-72632796	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1051004	chr9:72557761-72632015	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72580400-72590600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:72580600-72591000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:72584200-72591000	Weak transcription	Esophagus	oesophagus
4	chr9:72585200-72589800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:72585800-72590400	Weak transcription	HUVEC	blood vessel
6	chr9:72585800-72590800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:72586600-72588200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:72587000-72589400	Weak transcription	HSMMtube	muscle
9	chr9:72587000-72590000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:72587000-72590600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:72587000-72590600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:72587000-72596800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:72587200-72588200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:72587200-72589200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:72587200-72589800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:72587200-72590000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:72587200-72590000	Weak transcription	NH-A	brain
18	chr9:72587200-72590400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:72587200-72590400	Weak transcription	NHLF	lung
20	chr9:72587200-72590600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:72587200-72590600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:72587200-72590600	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:72587200-72590800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:72587200-72590800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:72587200-72590800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr9:72587400-72589600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:72587400-72590600	Weak transcription	HMEC	breast
28	chr9:72587400-72590600	Weak transcription	NHDF-Ad	bronchial
29	chr9:72587400-72590600	Weak transcription	NHEK	skin
30	chr9:72587400-72590600	Weak transcription	Osteobl	bone
31	chr9:72587400-72590800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:72587400-72591000	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:72587800-72590600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr9:72588000-72588200	Enhancers	HSMM	muscle

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