Variant report

Variant	rs17069893
Chromosome Location	chr6:140578494-140578495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:140566708..140568790-chr6:140577042..140579091,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10499219	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1113096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965946	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11966793	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967431	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11969633	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12523886	0.80[EUR][1000 genomes]
rs12524727	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12525793	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12526277	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12529188	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12529620	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12529729	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1390500	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1496114	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1580734	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17069741	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17069805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17069935	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1879097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2050716	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2328026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328060	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57789174	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59447713	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60747543	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62429779	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62429786	0.84[ASN][1000 genomes]
rs62429787	0.84[ASN][1000 genomes]
rs62429788	0.84[ASN][1000 genomes]
rs62429789	0.84[ASN][1000 genomes]
rs62431062	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62431064	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62431065	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62431066	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62431098	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62431099	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62431110	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62431142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6914407	0.84[ASN][1000 genomes]
rs6915764	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs732015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73571530	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv886693	chr6:140444057-140578494	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv1825718	chr6:140476088-140584384	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1015293	chr6:140544956-140798437	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv817390	chr6:140558103-141166039	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	esv3416280	chr6:140576308-140594282	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17069893	UTRN	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140576600-140578800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:140577600-140578600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:140577600-140578800	Enhancers	K562	blood
4	chr6:140578400-140578800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:140578400-140578800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr6:140578400-140579400	Enhancers	HUES6 Cell Line	embryonic stem cell

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