Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153278678..153281410-chr1:153281777..153283350,2	K562	blood:
2	chr1:153271781..153274272-chr1:153277861..153280587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159527	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1094362	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1655308	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1655310	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1754132	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1754133	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1754134	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1836118	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2570443	0.98[EUR][1000 genomes]
rs2771112	0.98[EUR][1000 genomes]
rs2771115	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2771116	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2771118	0.82[ASN][1000 genomes]
rs61334871	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs821407	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs821408	0.82[ASN][1000 genomes]
rs821411	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs821414	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs821416	0.99[EUR][1000 genomes]
rs821418	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs821419	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs821420	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs821424	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs821427	0.82[EUR][1000 genomes]
rs843971	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv999024	chr1:153255005-153325685	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1655320	PGLYRP3	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153266800-153284400	Weak transcription	Esophagus	oesophagus
2	chr1:153278200-153280400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:153278800-153280000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:153278800-153280200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:153279000-153279400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:153279000-153279800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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