Variant report

Variant	rs73647254
Chromosome Location	chr9:72180483-72180484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11139414	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11999656	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12000827	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12000908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12006272	0.85[EUR][1000 genomes]
rs12552474	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12553894	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12553941	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12554978	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12555100	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1411439	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1411441	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1411442	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3927537	0.89[EUR][1000 genomes]
rs4636268	0.85[EUR][1000 genomes]
rs56654380	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57512468	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58638129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58667541	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58898534	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59791186	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60759202	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7036538	0.85[EUR][1000 genomes]
rs72717199	0.85[EUR][1000 genomes]
rs72719005	0.85[EUR][1000 genomes]
rs72719017	0.85[EUR][1000 genomes]
rs72719024	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs73647250	0.85[EUR][1000 genomes]
rs73647252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647255	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647256	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647257	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647259	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647260	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647261	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647262	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647263	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647264	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647265	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73647266	0.80[EUR][1000 genomes]
rs7849601	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7861451	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
2	nsv1039966	chr9:72057304-72181564	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv893437	chr9:72118962-72223176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1049390	chr9:72168645-72185751	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72163200-72185600	Weak transcription	Aorta	Aorta
2	chr9:72170200-72184200	Weak transcription	Ovary	ovary
3	chr9:72173800-72188400	Weak transcription	Fetal Lung	lung
4	chr9:72178400-72181400	Enhancers	Fetal Heart	heart
5	chr9:72178600-72181800	Enhancers	Brain Germinal Matrix	brain
6	chr9:72178600-72181800	Enhancers	Fetal Brain Male	brain
7	chr9:72178800-72181400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr9:72179200-72180800	Enhancers	Fetal Brain Female	brain
9	chr9:72179200-72181000	Enhancers	Brain Angular Gyrus	brain
10	chr9:72179200-72181200	Enhancers	Brain Hippocampus Middle	brain
11	chr9:72179400-72181000	Enhancers	Brain Substantia Nigra	brain
12	chr9:72179400-72181200	Enhancers	Liver	Liver
13	chr9:72179600-72180600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:72179600-72181000	Enhancers	Left Ventricle	heart
15	chr9:72179800-72181000	Enhancers	Right Ventricle	heart
16	chr9:72179800-72181200	Weak transcription	Brain Anterior Caudate	brain
17	chr9:72179800-72184000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:72180000-72181800	Enhancers	Fetal Muscle Trunk	muscle
19	chr9:72180000-72181800	Enhancers	Right Atrium	heart
20	chr9:72180000-72183600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:72180200-72180600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:72180200-72180600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:72180200-72181000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:72180200-72183800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:72180400-72183800	Weak transcription	Adipose Nuclei	Adipose
26	chr9:72180400-72183800	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:72180400-72185000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:72180400-72208400	Weak transcription	Gastric	stomach

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