Variant report

Variant	rs10507570
Chromosome Location	chr13:52468070-52468071
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52463714..52466510-chr13:52467238..52469921,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1054515	0.91[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs1985415	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34944966	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3803202	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3803203	0.96[ASN][1000 genomes]
rs489975	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4941714	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4943033	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4943034	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4943036	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561654	0.86[CHB][hapmap]
rs7324123	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7336768	0.96[ASN][1000 genomes]
rs7999573	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs913900	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs932913	0.95[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9563077	0.96[ASN][1000 genomes]
rs9568670	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9568671	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9596606	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596607	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9634847	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9989110	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10507570	VPS36	cis	cerebellum	SCAN
rs10507570	THSD1	cis	parietal	SCAN
rs10507570	NEK3	Cis_1M	lymphoblastoid	RTeQTL
rs10507570	CKAP2	cis	parietal	SCAN
rs10507570	NCRNA00282	cis	cerebellum	SCAN
rs10507570	THSD1	cis	cerebellum	SCAN
rs10507570	CKAP2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52433800-52479400	Weak transcription	HepG2	liver
2	chr13:52457400-52480200	Weak transcription	Liver	Liver
3	chr13:52463800-52477000	Weak transcription	Fetal Intestine Small	intestine
4	chr13:52464600-52494400	Weak transcription	Aorta	Aorta
5	chr13:52466000-52469600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:52466000-52469600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:52467000-52470200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:52467400-52468400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:52467400-52469400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:52467400-52469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:52467600-52480400	Weak transcription	Fetal Lung	lung

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