Variant report

Variant	rs56853109
Chromosome Location	chr5:126774912-126774913
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:25)

rs_ID	r²[population]
rs11956397	1.00[AMR][1000 genomes]
rs11957319	0.87[AMR][1000 genomes]
rs17164905	0.87[AMR][1000 genomes]
rs17164925	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17164941	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164956	1.00[AMR][1000 genomes]
rs17164963	1.00[AMR][1000 genomes]
rs55851028	1.00[AMR][1000 genomes]
rs57502023	1.00[AMR][1000 genomes]
rs58718502	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59739975	0.87[AMR][1000 genomes]
rs60678437	0.87[AMR][1000 genomes]
rs60681812	0.86[AFR][1000 genomes]
rs60694077	1.00[AMR][1000 genomes]
rs60931267	1.00[AMR][1000 genomes]
rs61021426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61031224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331252	0.87[AMR][1000 genomes]
rs73346997	1.00[AMR][1000 genomes]
rs73348707	1.00[AMR][1000 genomes]
rs73348729	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348744	0.86[AFR][1000 genomes]
rs73348755	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348768	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73348777	0.87[AMR][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	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:126760400-126778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:126761000-126783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:126761800-126776600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:126761800-126779600	Weak transcription	Right Atrium	heart
8	chr5:126762800-126778400	Weak transcription	Pancreas	Pancrea
9	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:126765800-126782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:126768200-126776200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:126768200-126782000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:126769200-126775400	Weak transcription	Fetal Brain Male	brain
14	chr5:126772600-126776800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:126773400-126776600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:126773600-126775000	Strong transcription	HSMMtube	muscle
17	chr5:126774000-126776200	Strong transcription	Brain Hippocampus Middle	brain
18	chr5:126774000-126776600	Strong transcription	Brain Substantia Nigra	brain
19	chr5:126774200-126775000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:126774400-126775400	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:126774400-126776000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:126774600-126776200	Weak transcription	Brain Angular Gyrus	brain
23	chr5:126774600-126798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:126774800-126776200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:126774800-126776200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:126774800-126777400	Weak transcription	Brain Anterior Caudate	brain
27	chr5:126774800-126778800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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