Variant report

Variant	rs59827664
Chromosome Location	chr4:124621004-124621005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57043815	1.00[EUR][1000 genomes]
rs59756110	1.00[EUR][1000 genomes]
rs59797108	1.00[AFR][1000 genomes]
rs60141661	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61098146	1.00[AFR][1000 genomes];1.00[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv980514	chr4:124620149-124622952	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124618400-124632000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:124619400-124621400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:124619400-124621400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:124620400-124621400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:124620400-124621400	Enhancers	NHLF	lung
6	chr4:124620400-124621600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:124620400-124623200	Enhancers	Fetal Lung	lung
8	chr4:124620600-124621400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:124620600-124621400	Enhancers	Osteobl	bone
10	chr4:124620800-124621200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:124620800-124621400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:124620800-124621400	Enhancers	NHDF-Ad	bronchial
13	chr4:124620800-124621600	Enhancers	Colon Smooth Muscle	Colon
14	chr4:124620800-124621600	Enhancers	HSMMtube	muscle
15	chr4:124620800-124621800	Enhancers	NH-A	brain
16	chr4:124620800-124622000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:124620800-124622000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:124620800-124622800	Enhancers	HSMM	muscle
19	chr4:124620800-124623200	Enhancers	HUVEC	blood vessel
20	chr4:124621000-124621200	Enhancers	Adipose Nuclei	Adipose
21	chr4:124621000-124621200	Flanking Active TSS	Fetal Brain Male	brain
22	chr4:124621000-124621400	Enhancers	Fetal Muscle Leg	muscle
23	chr4:124621000-124621600	Enhancers	Stomach Smooth Muscle	stomach
24	chr4:124621000-124621800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:124621000-124621800	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr4:124621000-124621800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr4:124621000-124621800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:124621000-124622000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:124621000-124622000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:124621000-124622000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:124621000-124622000	Enhancers	Fetal Intestine Large	intestine
32	chr4:124621000-124622000	Enhancers	Fetal Stomach	stomach
33	chr4:124621000-124622000	Enhancers	Psoas Muscle	Psoas
34	chr4:124621000-124622000	Enhancers	HMEC	breast
35	chr4:124621000-124622200	Enhancers	Rectal Smooth Muscle	rectum
36	chr4:124621000-124622600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:124621000-124623200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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