Variant report

Variant	rs58112872
Chromosome Location	chr3:110893621-110893622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12185974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801650	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1824709	0.89[EUR][1000 genomes]
rs56324569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56724510	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61190717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6437943	0.83[EUR][1000 genomes]
rs73852384	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73852394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852401	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73852402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854910	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73854911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854920	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73854921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73854926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854928	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854929	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7616280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7622397	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642664	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9844779	0.83[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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv829675	chr3:110885605-111101858	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv877339	chr3:110889974-111070554	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:110842600-110911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:110847000-110911400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:110853000-110919600	Weak transcription	Fetal Brain Male	brain
6	chr3:110853200-110897000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:110853200-110911000	Weak transcription	NH-A	brain
8	chr3:110869400-110929000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:110871000-110914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:110871200-110896400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:110872200-110913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:110872600-110918800	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:110872800-110896000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:110874200-110894200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:110874200-110912000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:110874400-110911800	Weak transcription	Left Ventricle	heart
17	chr3:110874800-110913000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:110875200-110897600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:110880600-110903600	Weak transcription	Fetal Kidney	kidney
20	chr3:110881000-110928000	Weak transcription	Osteobl	bone
21	chr3:110883800-110908400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:110889000-110893800	Strong transcription	Dnd41	blood
23	chr3:110889000-110894600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:110890000-110894800	Strong transcription	HSMM	muscle
25	chr3:110890200-110913200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:110890800-110894200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr3:110890800-110919800	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:110891600-110894200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:110891600-110894400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:110891800-110894000	Strong transcription	HSMMtube	muscle
31	chr3:110892000-110894200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:110892000-110895400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:110892000-110915800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:110892200-110893800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:110892200-110894200	Strong transcription	NHLF	lung
36	chr3:110892200-110894400	Strong transcription	Ovary	ovary
37	chr3:110892400-110894200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:110892400-110903400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:110892400-110911200	Weak transcription	Liver	Liver
40	chr3:110892400-110912800	Weak transcription	HepG2	liver
41	chr3:110892800-110893800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:110892800-110894000	Strong transcription	Fetal Stomach	stomach
43	chr3:110892800-110910000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:110892800-110911000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:110892800-110911000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:110892800-110911200	Weak transcription	Adipose Nuclei	Adipose
47	chr3:110892800-110911600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:110893000-110910000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:110893000-110911400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:110893000-110916200	Weak transcription	A549	lung

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