Variant report

Variant	rs59690640
Chromosome Location	chr5:92928002-92928003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59459894	1.00[AMR][1000 genomes]
rs73135337	1.00[AMR][1000 genomes]
rs73135340	1.00[AMR][1000 genomes]
rs73135341	1.00[AMR][1000 genomes]
rs73137105	1.00[AMR][1000 genomes]
rs73137153	1.00[AMR][1000 genomes]
rs73137190	1.00[AMR][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	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv882383	chr5:92895401-92928346	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv4918	chr5:92898426-92943359	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1794960	chr5:92919821-92932305	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1837322	chr5:92919821-92933747	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92920800-92929400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:92922200-92931400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:92922200-92934200	Weak transcription	HSMMtube	muscle
4	chr5:92922600-92929200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:92922800-92929800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:92924200-92929400	Weak transcription	HMEC	breast
7	chr5:92924200-92935000	Weak transcription	Gastric	stomach
8	chr5:92924400-92929800	Weak transcription	NHDF-Ad	bronchial
9	chr5:92924600-92928600	Weak transcription	Adipose Nuclei	Adipose
10	chr5:92924600-92930600	Weak transcription	Pancreas	Pancrea
11	chr5:92924800-92929400	Weak transcription	Osteobl	bone
12	chr5:92925200-92928800	Weak transcription	Brain Substantia Nigra	brain
13	chr5:92925600-92930200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:92926000-92929000	Active TSS	Fetal Brain Male	brain
15	chr5:92926000-92929800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:92926200-92929000	Genic enhancers	Fetal Stomach	stomach
17	chr5:92926400-92932600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:92926800-92929200	Weak transcription	HSMM	muscle
19	chr5:92926800-92931600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:92927000-92928600	Weak transcription	Hela-S3	cervix
21	chr5:92927000-92934600	Weak transcription	HUVEC	blood vessel
22	chr5:92927200-92928600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:92927400-92928600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:92927400-92928600	Enhancers	NH-A	brain
25	chr5:92927400-92932200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:92927600-92928400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:92927600-92928400	Enhancers	Brain Angular Gyrus	brain
28	chr5:92927600-92928400	Active TSS	Fetal Kidney	kidney
29	chr5:92927600-92928600	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:92927600-92928600	Weak transcription	HepG2	liver
31	chr5:92927600-92928800	Active TSS	Fetal Brain Female	brain
32	chr5:92927600-92929200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:92927600-92929200	Weak transcription	Spleen	Spleen
34	chr5:92927600-92931600	Strong transcription	Ovary	ovary
35	chr5:92927800-92928800	Weak transcription	Brain Anterior Caudate	brain
36	chr5:92927800-92928800	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr5:92927800-92929200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:92927800-92929200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:92927800-92931600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:92928000-92928200	Bivalent Enhancer	Fetal Lung	lung
41	chr5:92928000-92928400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:92928000-92928600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:92928000-92928600	Genic enhancers	NHLF	lung
44	chr5:92928000-92931200	Strong transcription	Muscle Satellite Cultured Cells	--

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