Variant report

Variant	rs72730387
Chromosome Location	chr4:151083924-151083925
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10002193	0.90[ASN][1000 genomes]
rs10012983	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857242	0.88[AFR][1000 genomes]
rs11099756	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11099757	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4129179	0.89[ASN][1000 genomes]
rs4240359	0.90[ASN][1000 genomes]
rs4411962	0.89[ASN][1000 genomes]
rs4513544	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6535713	0.89[ASN][1000 genomes]
rs6830296	0.99[ASN][1000 genomes]
rs72730355	0.88[AFR][1000 genomes]
rs72730358	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72730365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72730391	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72730393	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72732407	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7655178	0.99[ASN][1000 genomes]
rs7659245	0.89[ASN][1000 genomes]
rs7680670	0.89[ASN][1000 genomes]
rs9993737	0.90[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:30 , 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	chr4:151072600-151088000	Weak transcription	Fetal Stomach	stomach
5	chr4:151072600-151089000	Weak transcription	Aorta	Aorta
6	chr4:151074400-151091800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:151074400-151094200	Weak transcription	NH-A	brain
8	chr4:151074600-151087800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:151074600-151090000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:151074600-151094000	Weak transcription	HSMMtube	muscle
11	chr4:151074600-151094600	Weak transcription	HSMM	muscle
12	chr4:151075200-151085000	Weak transcription	Ovary	ovary
13	chr4:151077200-151087800	Weak transcription	A549	lung
14	chr4:151080600-151088400	Weak transcription	NHLF	lung
15	chr4:151081400-151094200	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:151081400-151096600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:151081600-151088000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:151082000-151084800	Weak transcription	NHDF-Ad	bronchial
19	chr4:151082000-151086200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:151082000-151088000	Weak transcription	Left Ventricle	heart
21	chr4:151082000-151088000	Weak transcription	Right Ventricle	heart
22	chr4:151082400-151088400	Weak transcription	Brain Anterior Caudate	brain
23	chr4:151082600-151084000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:151082600-151085400	Weak transcription	Brain Germinal Matrix	brain
25	chr4:151082600-151086000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:151082600-151086200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:151082600-151087800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:151083000-151084800	Weak transcription	Fetal Heart	heart
29	chr4:151083800-151084400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:151083800-151087200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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