Variant report

Variant	rs1578872
Chromosome Location	chr13:53577298-53577299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53449518..53452433-chr13:53575693..53577870,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11617841	0.84[CEU][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs11618509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11618720	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11618738	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1323112	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1555559	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34858262	0.81[EUR][1000 genomes]
rs35082723	0.81[EUR][1000 genomes]
rs6561700	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6561701	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6561702	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73192464	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7319859	0.81[EUR][1000 genomes]
rs7320575	0.81[EUR][1000 genomes]
rs7321464	0.81[EUR][1000 genomes]
rs7326351	0.81[EUR][1000 genomes]
rs7327967	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7996239	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9316600	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9316602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316603	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9527046	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536322	0.83[EUR][1000 genomes]
rs9536327	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9568783	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9568784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568787	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9596733	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs986338	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1578872	CCDC70	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53572600-53578000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr13:53575000-53579600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:53575800-53584400	Weak transcription	Esophagus	oesophagus

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