Variant report

Variant	rs618531
Chromosome Location	chr1:70872392-70872393
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	CEBPB	chr1:70871818-70872445	K562	blood:	n/a	chr1:70872278-70872289 chr1:70871828-70871837 chr1:70871828-70871839 chr1:70872279-70872288 chr1:70871826-70871839
2	CEBPB	chr1:70872132-70872573	HepG2	liver:	n/a	chr1:70872278-70872289 chr1:70872503-70872516 chr1:70872279-70872288 chr1:70872503-70872516
3	CEBPB	chr1:70872119-70872412	H1-hESC	embryonic stem cell:	n/a	chr1:70872278-70872289 chr1:70872279-70872288

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70871257..70873394-chr1:70875235..70877484,2	MCF-7	breast:

Variant related genes	Relation type
CTH	TF binding region
ENSG00000116761	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10493473	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11209612	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11209613	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12116830	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12118663	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12126226	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12137720	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12730494	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12741941	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12751638	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35481139	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs482291	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs490574	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs508310	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513263	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542842	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs543860	0.88[EUR][1000 genomes]
rs561926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71500608	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71651454	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	esv1797324	chr1:70858435-70876569	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	n/a
4	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs618531	HHLA3	Cis_1M	lymphoblastoid	RTeQTL
rs618531	HHLA3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70871400-70872800	Enhancers	Liver	Liver
2	chr1:70871600-70872800	Enhancers	Adipose Nuclei	Adipose
3	chr1:70871600-70875800	Weak transcription	HUVEC	blood vessel
4	chr1:70871800-70872800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:70871800-70875800	Weak transcription	Fetal Lung	lung

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