Variant report

Variant	rs72617457
Chromosome Location	chr4:151137260-151137261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12501888	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12506758	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12513356	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835621	0.81[EUR][1000 genomes]
rs58654970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7679888	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7692551	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151103200-151138000	Weak transcription	NH-A	brain
2	chr4:151114200-151154200	Weak transcription	Aorta	Aorta
3	chr4:151122200-151137800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:151128000-151138000	Weak transcription	Brain Substantia Nigra	brain
5	chr4:151128000-151138000	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:151128200-151137800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:151128400-151138200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:151128600-151137800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:151129400-151137600	Weak transcription	Fetal Brain Male	brain
10	chr4:151130400-151138000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:151130600-151156000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:151132600-151138200	Weak transcription	Fetal Brain Female	brain
13	chr4:151132600-151143200	Weak transcription	Fetal Stomach	stomach
14	chr4:151132800-151137400	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:151132800-151150400	Weak transcription	Pancreas	Pancrea
16	chr4:151133200-151138400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:151133200-151145600	Weak transcription	HSMMtube	muscle
18	chr4:151133200-151150400	Weak transcription	Right Ventricle	heart
19	chr4:151133400-151137800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:151133400-151138200	Weak transcription	Fetal Lung	lung
21	chr4:151133400-151150400	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:151133600-151138000	Weak transcription	Fetal Kidney	kidney
23	chr4:151133600-151138000	Weak transcription	Osteobl	bone
24	chr4:151133800-151138000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:151133800-151141000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:151134000-151138000	Weak transcription	NHDF-Ad	bronchial
27	chr4:151134400-151138200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:151134600-151138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:151134600-151138200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:151134600-151138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:151134600-151141600	Weak transcription	HSMM	muscle
32	chr4:151135400-151139600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:151136000-151138000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:151136400-151137600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:151136400-151137600	Enhancers	Placenta	Placenta
36	chr4:151136400-151138000	Enhancers	Brain Germinal Matrix	brain
37	chr4:151136400-151138200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:151136400-151138200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:151136400-151138800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:151136400-151139800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:151136400-151140000	Enhancers	Fetal Heart	heart
42	chr4:151136400-151141600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:151136400-151142200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr4:151136600-151137400	Enhancers	NHEK	skin
45	chr4:151136600-151138400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr4:151136600-151140000	Enhancers	A549	lung
47	chr4:151137000-151138200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:151137000-151146000	Weak transcription	Left Ventricle	heart
49	chr4:151137200-151137600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:151137200-151137600	Weak transcription	Brain Angular Gyrus	brain

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