Variant report

Variant	rs73348768
Chromosome Location	chr5:126796977-126796978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11956397	0.87[AMR][1000 genomes]
rs11957319	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164905	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164911	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17164925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17164941	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17164956	0.87[AMR][1000 genomes]
rs17164963	0.87[AMR][1000 genomes]
rs55851028	0.87[AMR][1000 genomes]
rs56853109	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57502023	0.87[AMR][1000 genomes]
rs58718502	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59739975	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60678437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60694077	0.87[AMR][1000 genomes]
rs60931267	0.87[AMR][1000 genomes]
rs61021426	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61031224	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73331252	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346997	0.87[AMR][1000 genomes]
rs73348707	0.87[AMR][1000 genomes]
rs73348729	0.87[AMR][1000 genomes]
rs73348755	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73348777	0.98[AFR][1000 genomes];1.00[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126774600-126798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:126783800-126797200	Weak transcription	HSMM	muscle
3	chr5:126785200-126797000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:126786000-126797600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:126788800-126797800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:126789400-126797000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:126789800-126797000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:126790200-126797200	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:126791400-126797200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:126793200-126798000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:126793400-126797000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:126793400-126797000	Weak transcription	Brain Anterior Caudate	brain
14	chr5:126793400-126797200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:126793400-126799600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:126793400-126805200	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:126794000-126797000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:126795600-126797200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:126795600-126799400	Weak transcription	HSMMtube	muscle
20	chr5:126796800-126797600	Enhancers	Cortex derived primary cultured neurospheres	brain

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