Variant report

Variant	rs2145617
Chromosome Location	chr4:74646615-74646616
allele	C/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	chr4:74646568-74646704	HepG2	liver:	n/a	chr4:74646632-74646643 chr4:74646630-74646641 chr4:74646632-74646641 chr4:74646630-74646643

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74646058..74648383-chr4:74648507..74650291,2	K562	blood:
2	chr4:74645799..74647347-chr4:74650995..74652534,2	K562	blood:

Variant related genes	Relation type
ENSG00000249051	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10005565	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10009462	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10009488	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10010970	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10012962	0.83[EUR][1000 genomes]
rs10015626	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10019318	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10031141	0.81[CEU][hapmap];0.80[CHB][hapmap];0.80[TSI][hapmap]
rs10938094	0.83[EUR][1000 genomes]
rs10938095	0.83[EUR][1000 genomes]
rs10938096	0.82[EUR][1000 genomes]
rs10938097	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10938100	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11730284	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11730667	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11733222	0.81[EUR][1000 genomes]
rs11938389	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12503139	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12644561	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13106097	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13109146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13109377	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13112910	0.82[ASN][1000 genomes]
rs13116536	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13117876	0.84[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13138675	0.95[EUR][1000 genomes]
rs13151869	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16849928	0.83[ASN][1000 genomes]
rs16849958	0.84[ASN][1000 genomes]
rs16850073	0.81[CHD][hapmap]
rs1951235	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951236	0.84[ASN][1000 genomes]
rs1951240	0.84[ASN][1000 genomes]
rs1951242	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1957070	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2224434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2227306	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs2227307	0.82[ASN][1000 genomes]
rs2227521	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2227543	0.81[CEU][hapmap];0.85[CHB][hapmap];0.81[GIH][hapmap]
rs2367276	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28609798	0.83[EUR][1000 genomes]
rs28833215	0.82[EUR][1000 genomes]
rs2886920	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2886922	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4073	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4279174	0.83[EUR][1000 genomes]
rs4549349	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4694178	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4694636	0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4694637	0.84[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4694639	0.81[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs6446959	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6446960	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6446961	0.81[CEU][hapmap];0.85[CHB][hapmap];0.82[EUR][1000 genomes]
rs6820848	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6831029	0.82[EUR][1000 genomes]
rs6853679	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs724398	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7669281	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7689435	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9999262	0.83[EUR][1000 genomes]
rs9999446	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv1797770	chr4:74645716-74660393	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2145617	SEPT11	cis	parietal	SCAN
rs2145617	PF4V1	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74646400-74647000	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr4:74646400-74647000	Enhancers	Rectal Mucosa Donor 31	rectum

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