Variant report

Variant	rs7551324
Chromosome Location	chr1:93260233-93260234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:93260185-93261206	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:

Variant related genes	Relation type
EVI5	TF binding region
ENSG00000067208	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1003116	0.84[EUR][1000 genomes]
rs10735781	0.81[EUR][1000 genomes]
rs10747446	0.82[EUR][1000 genomes]
rs10782937	0.82[EUR][1000 genomes]
rs10782941	0.86[EUR][1000 genomes]
rs10782945	0.86[ASN][1000 genomes]
rs10874726	0.81[EUR][1000 genomes]
rs10874727	0.82[EUR][1000 genomes]
rs10874732	0.81[EUR][1000 genomes]
rs10874733	0.80[EUR][1000 genomes]
rs10874736	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10874738	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10874744	0.86[ASN][1000 genomes]
rs11164785	0.82[AMR][1000 genomes]
rs11164789	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11164791	0.81[EUR][1000 genomes]
rs11164796	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11164807	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164810	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12021539	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12025792	0.81[EUR][1000 genomes]
rs12123935	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12401423	0.89[EUR][1000 genomes]
rs1337107	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1535372	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2065915	0.85[EUR][1000 genomes]
rs2107518	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2107519	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2180976	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391197	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3936944	0.81[EUR][1000 genomes]
rs4294424	0.83[EUR][1000 genomes]
rs4480368	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4622073	0.85[AFR][1000 genomes]
rs4847267	0.84[EUR][1000 genomes]
rs4847301	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4847306	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4847311	0.91[EUR][1000 genomes]
rs4847336	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4847432	0.81[EUR][1000 genomes]
rs6603997	0.82[AMR][1000 genomes]
rs6604007	0.85[EUR][1000 genomes]
rs6604008	0.81[EUR][1000 genomes]
rs6604013	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6604014	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6660136	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6666831	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6675753	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6675757	0.82[EUR][1000 genomes]
rs6680578	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7418336	0.80[EUR][1000 genomes]
rs7514334	0.82[EUR][1000 genomes]
rs7530780	0.81[EUR][1000 genomes]
rs7549341	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93258000-93268400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:93258000-93270200	Weak transcription	Right Atrium	heart
3	chr1:93258200-93263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:93258200-93263600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:93258800-93269800	Weak transcription	Fetal Heart	heart
6	chr1:93259800-93260600	Enhancers	K562	blood
7	chr1:93260000-93260600	Enhancers	HepG2	liver

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