Variant report

Variant	rs10958492
Chromosome Location	chr8:49107999-49108000
allele	G/T
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	chr8:49107927-49108224	IMR90	lung:	n/a	chr8:49108057-49108068
2	CEBPB	chr8:49107893-49108163	K562	blood:	n/a	chr8:49108057-49108068
3	CEBPB	chr8:49107898-49108243	HepG2	liver:	n/a	chr8:49108057-49108068

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49107364..49109537-chr8:49113268..49115382,2	K562	blood:

Variant related genes	Relation type
ENSG00000253843	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10086138	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10106082	0.84[ASN][1000 genomes]
rs10453133	0.81[AMR][1000 genomes]
rs10957003	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10958493	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958494	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779663	0.87[EUR][1000 genomes]
rs11781426	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783152	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783466	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11786285	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12155524	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12155855	0.82[ASN][1000 genomes]
rs12550843	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12679335	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12681895	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12682398	0.82[ASN][1000 genomes]
rs13252104	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13265298	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35157243	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35975383	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3934733	0.83[ASN][1000 genomes]
rs3934735	0.83[ASN][1000 genomes]
rs3935535	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4072343	0.83[ASN][1000 genomes]
rs4242486	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4286973	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4291295	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4329299	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4357320	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4375031	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4392930	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4480143	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4526384	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4873081	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4873788	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838270	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7844929	0.84[ASN][1000 genomes]
rs9650185	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9657169	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1841988	chr8:49093467-49156411	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49101800-49110400	Weak transcription	Ovary	ovary
2	chr8:49104200-49115400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:49105200-49108000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:49105200-49111000	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:49106600-49111000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:49107400-49110200	Weak transcription	NHDF-Ad	bronchial

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