Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140664931..140667594-chr7:140670729..140673169,2	K562	blood:
2	chr7:140661687..140663739-chr7:140664738..140669110,3	MCF-7	breast:

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

rs_ID	r²[population]
rs10240888	0.89[ASN][1000 genomes]
rs10255167	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10265001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268118	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1044927	0.82[EUR][1000 genomes]
rs10952364	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12538296	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13438609	0.93[ASN][1000 genomes]
rs3852286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3864527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs38715	0.82[ASN][1000 genomes]
rs38717	0.82[ASN][1000 genomes]
rs38718	0.80[ASN][1000 genomes]
rs38720	0.82[ASN][1000 genomes]
rs38722	0.82[ASN][1000 genomes]
rs38723	0.82[ASN][1000 genomes]
rs60164573	0.93[ASN][1000 genomes]
rs62485391	0.93[ASN][1000 genomes]
rs62485451	0.93[ASN][1000 genomes]
rs62485452	0.84[ASN][1000 genomes]
rs6464217	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6971577	0.82[EUR][1000 genomes]
rs9800952	0.80[AMR][1000 genomes];0.80[EUR][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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1797438	chr7:140666808-140682332	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13236223	TMEM178B	cis	Esophagus Mucosa	GTEx
rs13236223	MRPS33	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140657200-140669000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:140665200-140667600	Enhancers	Fetal Intestine Large	intestine
3	chr7:140666400-140667000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:140666400-140667800	Enhancers	Fetal Intestine Small	intestine
5	chr7:140666400-140668800	Enhancers	HepG2	liver
6	chr7:140666800-140667600	Enhancers	Placenta	Placenta

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