Variant report

Variant	rs11559058
Chromosome Location	chr4:120057065-120057066
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:3)

rs_ID	r²[population]
rs17050059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28405657	0.83[EUR][1000 genomes]
rs59534418	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120045200-120059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:120052000-120057200	Weak transcription	Psoas Muscle	Psoas
3	chr4:120052800-120058800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:120052800-120060000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:120055800-120061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:120056200-120058000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:120056200-120058000	Enhancers	NHDF-Ad	bronchial
8	chr4:120056200-120061200	Enhancers	HSMM	muscle
9	chr4:120056400-120057600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:120056400-120057600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:120056400-120057800	Enhancers	HUVEC	blood vessel
12	chr4:120056400-120061800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:120056600-120057400	Enhancers	NH-A	brain
14	chr4:120056600-120058200	Enhancers	Brain Substantia Nigra	brain
15	chr4:120056600-120058800	Enhancers	Brain Hippocampus Middle	brain
16	chr4:120056800-120057200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:120056800-120057200	Enhancers	Pancreas	Pancrea
18	chr4:120056800-120057400	Enhancers	HMEC	breast
19	chr4:120056800-120057600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:120056800-120057600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:120056800-120057600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:120056800-120057600	Enhancers	NHLF	lung
23	chr4:120056800-120057800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:120056800-120057800	Enhancers	Brain Angular Gyrus	brain
25	chr4:120056800-120058000	Enhancers	Brain Cingulate Gyrus	brain
26	chr4:120056800-120058000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:120056800-120059600	Active TSS	Fetal Muscle Trunk	muscle
28	chr4:120056800-120060200	Active TSS	Fetal Heart	heart
29	chr4:120056800-120060600	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr4:120057000-120057200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:120057000-120057200	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr4:120057000-120057400	Flanking Active TSS	Osteobl	bone
33	chr4:120057000-120057600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr4:120057000-120057800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:120057000-120057800	Enhancers	A549	lung
36	chr4:120057000-120058000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:120057000-120058000	Flanking Active TSS	HSMMtube	muscle
38	chr4:120057000-120058200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:120057000-120060200	Active TSS	Aorta	Aorta
40	chr4:120057000-120060800	Active TSS	Left Ventricle	heart
41	chr4:120057000-120063600	Active TSS	Right Ventricle	heart
42	chr4:120057000-120068400	Active TSS	Right Atrium	heart

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