Variant report

Variant	rs57502023
Chromosome Location	chr5:126742545-126742546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11956397	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11957319	0.87[AMR][1000 genomes]
rs12109001	0.91[AFR][1000 genomes]
rs17164905	0.87[AMR][1000 genomes]
rs17164925	0.87[AMR][1000 genomes]
rs17164941	1.00[AMR][1000 genomes]
rs17164956	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55851028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56853109	1.00[AMR][1000 genomes]
rs58718502	1.00[AMR][1000 genomes]
rs59739975	0.87[AMR][1000 genomes]
rs60678437	0.87[AMR][1000 genomes]
rs60694077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60931267	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61021426	1.00[AMR][1000 genomes]
rs61031224	1.00[AMR][1000 genomes]
rs73331252	0.87[AMR][1000 genomes]
rs73346997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348729	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348755	1.00[AMR][1000 genomes]
rs73348768	0.87[AMR][1000 genomes]
rs73348777	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv526333	chr5:126732427-126746277	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126734800-126753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126737600-126743200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:126737600-126746400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:126738400-126743400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:126738600-126745000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:126738800-126746200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:126741200-126743400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:126741400-126742800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:126741600-126742600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:126741600-126742600	Enhancers	Brain Anterior Caudate	brain
12	chr5:126741600-126742600	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:126741600-126742800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:126741600-126742800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:126741600-126742800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:126741600-126742800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:126741600-126743000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr5:126741600-126743600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:126741800-126742600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:126741800-126742600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:126741800-126743200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:126741800-126743200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:126742000-126742600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:126742000-126742600	Enhancers	Brain Angular Gyrus	brain
25	chr5:126742000-126742600	Enhancers	NH-A	brain
26	chr5:126742000-126742800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:126742000-126742800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:126742000-126742800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:126742000-126742800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:126742000-126743000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:126742000-126743000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:126742000-126743000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:126742000-126743000	Genic enhancers	Fetal Muscle Leg	muscle
34	chr5:126742000-126743000	Enhancers	Psoas Muscle	Psoas
35	chr5:126742000-126743000	Enhancers	HSMMtube	muscle
36	chr5:126742200-126743000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr5:126742200-126745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:126742200-126745800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:126742400-126742800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:126742400-126742800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:126742400-126744200	Weak transcription	Brain Substantia Nigra	brain
42	chr5:126742400-126745000	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:126742400-126745000	Weak transcription	HSMM	muscle
44	chr5:126742400-126746000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:126742400-126746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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