Variant report

Variant	rs72730393
Chromosome Location	chr4:151088744-151088745
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10002193	0.98[ASN][1000 genomes]
rs10012983	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099756	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11099757	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4129179	0.99[ASN][1000 genomes]
rs4240359	0.98[ASN][1000 genomes]
rs4411962	0.99[ASN][1000 genomes]
rs4513544	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6535713	0.99[ASN][1000 genomes]
rs6830296	0.89[ASN][1000 genomes]
rs72730365	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72730387	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72730391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72732407	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7655178	0.89[ASN][1000 genomes]
rs7659245	0.99[ASN][1000 genomes]
rs7680670	0.99[ASN][1000 genomes]
rs9993737	0.98[ASN][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	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:151071400-151091400	Weak transcription	Osteobl	bone
3	chr4:151071600-151091600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:151072600-151089000	Weak transcription	Aorta	Aorta
5	chr4:151074400-151091800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:151074400-151094200	Weak transcription	NH-A	brain
7	chr4:151074600-151090000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:151074600-151094000	Weak transcription	HSMMtube	muscle
9	chr4:151074600-151094600	Weak transcription	HSMM	muscle
10	chr4:151081400-151094200	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:151081400-151096600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:151085400-151094200	Enhancers	Brain Germinal Matrix	brain
13	chr4:151085400-151097400	Weak transcription	Ovary	ovary
14	chr4:151086600-151088800	Enhancers	Fetal Lung	lung
15	chr4:151086600-151091800	Weak transcription	NHDF-Ad	bronchial
16	chr4:151087200-151093000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:151087200-151093800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:151087200-151094600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:151087400-151089000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:151087400-151089800	Enhancers	Fetal Heart	heart
21	chr4:151087600-151088800	Enhancers	Fetal Brain Male	brain
22	chr4:151087800-151088800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:151088000-151088800	Enhancers	Left Ventricle	heart
24	chr4:151088000-151088800	Enhancers	Right Ventricle	heart
25	chr4:151088000-151089000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:151088000-151089200	Enhancers	Spleen	Spleen
27	chr4:151088200-151088800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:151088200-151089200	Enhancers	Brain Cingulate Gyrus	brain
29	chr4:151088400-151088800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:151088400-151088800	Enhancers	Brain Angular Gyrus	brain
31	chr4:151088400-151088800	Enhancers	Brain Anterior Caudate	brain
32	chr4:151088400-151089000	Enhancers	Brain Hippocampus Middle	brain
33	chr4:151088400-151089000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr4:151088600-151089000	Enhancers	Lung	lung
35	chr4:151088600-151091400	Weak transcription	A549	lung
36	chr4:151088600-151094000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:151088600-151094000	Weak transcription	Fetal Brain Female	brain
38	chr4:151088600-151094000	Weak transcription	Fetal Stomach	stomach
39	chr4:151088600-151094000	Weak transcription	HUVEC	blood vessel
40	chr4:151088600-151094400	Weak transcription	Right Atrium	heart

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