Variant report

Variant	rs58338793
Chromosome Location	chr5:124757844-124757845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1554281	1.00[AMR][1000 genomes]
rs55717300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56707415	1.00[AMR][1000 genomes]
rs56821497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56835569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56988571	1.00[AMR][1000 genomes]
rs57118683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57123863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57697012	1.00[AMR][1000 genomes]
rs58308815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58631543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58917396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59000628	1.00[AMR][1000 genomes]
rs59380738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60214755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61304237	1.00[AMR][1000 genomes]
rs61472360	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6595615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866932	0.87[AFR][1000 genomes]
rs6866980	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6868024	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875057	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6875229	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6878929	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6883449	1.00[AMR][1000 genomes]
rs6883628	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6884059	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6884354	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887469	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6890153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894842	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303305	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73303332	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303374	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303384	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303399	1.00[AMR][1000 genomes]
rs73303400	1.00[AMR][1000 genomes]
rs73305305	1.00[AMR][1000 genomes]
rs73305308	1.00[AMR][1000 genomes]
rs73305320	1.00[AMR][1000 genomes]
rs73305337	1.00[AMR][1000 genomes]
rs73305339	1.00[AMR][1000 genomes]
rs73305342	1.00[AMR][1000 genomes]
rs73305344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305345	1.00[AMR][1000 genomes]
rs73321471	0.87[AFR][1000 genomes]
rs73321473	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7702589	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729702	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729817	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7730376	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730445	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7732317	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124750400-124759800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:124750400-124760400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:124751200-124758000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:124751200-124760200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:124751800-124760400	Weak transcription	Fetal Kidney	kidney
6	chr5:124753000-124760000	Weak transcription	Brain Angular Gyrus	brain
7	chr5:124753600-124760000	Weak transcription	Brain Anterior Caudate	brain
8	chr5:124756000-124758400	Enhancers	Fetal Brain Male	brain
9	chr5:124756600-124758200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:124756600-124758200	Enhancers	Brain Germinal Matrix	brain
11	chr5:124756600-124760400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:124756800-124758400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:124757200-124761000	Weak transcription	Fetal Brain Female	brain
14	chr5:124757400-124759200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:124757600-124758200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:124757800-124759800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:124757800-124760000	Weak transcription	Brain Hippocampus Middle	brain

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