Variant report

Variant	rs58919798
Chromosome Location	chr13:52448970-52448971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12874582	1.00[ASN][1000 genomes]
rs17076052	1.00[ASN][1000 genomes]
rs1815391	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1924614	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924615	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924618	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408530	1.00[ASN][1000 genomes]
rs28429889	1.00[ASN][1000 genomes]
rs28485335	1.00[ASN][1000 genomes]
rs34507703	1.00[ASN][1000 genomes]
rs34595679	1.00[ASN][1000 genomes]
rs35382547	1.00[ASN][1000 genomes]
rs35824984	1.00[ASN][1000 genomes]
rs4605048	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549831	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575555	1.00[ASN][1000 genomes]
rs577331	1.00[ASN][1000 genomes]
rs578134	1.00[ASN][1000 genomes]
rs579839	1.00[ASN][1000 genomes]
rs58050745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61023393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61957362	1.00[ASN][1000 genomes]
rs61957363	1.00[ASN][1000 genomes]
rs61957365	1.00[ASN][1000 genomes]
rs61957367	1.00[ASN][1000 genomes]
rs61957391	1.00[ASN][1000 genomes]
rs61957414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957416	1.00[EUR][1000 genomes]
rs61957417	1.00[EUR][1000 genomes]
rs647575	1.00[AMR][1000 genomes]
rs7323551	1.00[ASN][1000 genomes]
rs7333241	1.00[ASN][1000 genomes]
rs7336182	1.00[ASN][1000 genomes]
rs7338168	1.00[ASN][1000 genomes]
rs8001052	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs932912	1.00[ASN][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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52433800-52479400	Weak transcription	HepG2	liver
2	chr13:52438200-52455400	Weak transcription	Fetal Intestine Small	intestine
3	chr13:52446200-52457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:52447800-52449000	Enhancers	Fetal Thymus	thymus
5	chr13:52448000-52450000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:52448200-52449400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:52448200-52457000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:52448400-52449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:52448400-52449200	Enhancers	Brain Cingulate Gyrus	brain
10	chr13:52448600-52449200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:52448600-52449200	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr13:52448600-52449400	Enhancers	Brain Anterior Caudate	brain
13	chr13:52448600-52449600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:52448800-52449000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:52448800-52449000	Flanking Active TSS	Fetal Brain Male	brain
16	chr13:52448800-52449000	Flanking Active TSS	Fetal Brain Female	brain
17	chr13:52448800-52449200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:52448800-52449200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:52448800-52449200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr13:52448800-52449400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr13:52448800-52449600	Enhancers	Fetal Kidney	kidney

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