Variant report

Variant	rs72730321
Chromosome Location	chr4:151001284-151001285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151000698..151001437-chr4:151130301..151131200,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238721	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12500357	1.00[AFR][1000 genomes]
rs12502340	1.00[AFR][1000 genomes]
rs12506111	1.00[AFR][1000 genomes]
rs12507820	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12509998	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4401436	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4519777	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56039024	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62338169	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62338170	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62338172	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62339872	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62339873	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62339881	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339882	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339883	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339884	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339885	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339886	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339887	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62339888	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62339889	0.91[EUR][1000 genomes]
rs62339890	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62339893	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62339908	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62339914	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62339915	0.92[EUR][1000 genomes]
rs62341682	0.81[AMR][1000 genomes]
rs62341683	0.81[AMR][1000 genomes]
rs62341685	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62341687	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62341688	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72730305	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72730312	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72730320	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72730325	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7655129	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7658824	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7675626	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][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	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	nsv830111	chr4:150867357-151035556	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv530158	chr4:150877557-151040992	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150998400-151001800	Active TSS	Fetal Kidney	kidney
2	chr4:150998400-151002400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:150998600-151002600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:150998800-151001400	Active TSS	NHLF	lung
5	chr4:150998800-151001600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:150998800-151001600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:150998800-151002200	Active TSS	Brain Substantia Nigra	brain
8	chr4:150998800-151002600	Active TSS	Brain Angular Gyrus	brain
9	chr4:150998800-151002600	Active TSS	Brain Anterior Caudate	brain
10	chr4:150999000-151001600	Active TSS	HSMM	muscle
11	chr4:150999000-151001600	Active TSS	HSMMtube	muscle
12	chr4:150999000-151001800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:150999000-151002000	Active TSS	Rectal Smooth Muscle	rectum
14	chr4:150999000-151002600	Active TSS	Brain Cingulate Gyrus	brain
15	chr4:150999000-151002600	Active TSS	Brain Hippocampus Middle	brain
16	chr4:150999000-151002600	Active TSS	A549	lung
17	chr4:150999000-151003600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:150999200-151001600	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr4:150999200-151001600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr4:150999800-151001600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:151000000-151001800	Weak transcription	HepG2	liver
22	chr4:151000000-151001800	Flanking Active TSS	NH-A	brain
23	chr4:151000600-151002000	Enhancers	Spleen	Spleen
24	chr4:151000600-151002600	Flanking Active TSS	Fetal Brain Male	brain
25	chr4:151000800-151001400	Flanking Active TSS	Fetal Stomach	stomach
26	chr4:151000800-151001400	Flanking Active TSS	Right Ventricle	heart
27	chr4:151000800-151001600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr4:151000800-151001600	Weak transcription	Gastric	stomach
29	chr4:151000800-151002000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:151000800-151002000	Enhancers	Pancreas	Pancrea
31	chr4:151000800-151002400	Flanking Active TSS	Osteobl	bone
32	chr4:151000800-151002600	Flanking Active TSS	Fetal Heart	heart
33	chr4:151001000-151001400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:151001000-151001400	Enhancers	Ovary	ovary
35	chr4:151001000-151001600	Weak transcription	Lung	lung
36	chr4:151001000-151002000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:151001000-151002000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:151001000-151002000	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr4:151001000-151002600	Flanking Active TSS	Fetal Brain Female	brain
40	chr4:151001000-151005200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:151001000-151020000	Weak transcription	Aorta	Aorta
42	chr4:151001200-151001400	Enhancers	Primary B cells from peripheral blood	blood
43	chr4:151001200-151001400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr4:151001200-151001400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr4:151001200-151001400	Active TSS	Fetal Muscle Leg	muscle
46	chr4:151001200-151001400	Enhancers	Placenta	Placenta
47	chr4:151001200-151001400	Active TSS	NHDF-Ad	bronchial
48	chr4:151001200-151001600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:151001200-151001600	Active TSS	Hela-S3	cervix
50	chr4:151001200-151002000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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