Variant report

Variant	rs10958494
Chromosome Location	chr8:49110217-49110218
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	chr8:49110163-49110451	A549	lung:	n/a	chr8:49110304-49110315
2	CEBPB	chr8:49110216-49110455	IMR90	lung:	n/a	chr8:49110304-49110315
3	CEBPB	chr8:49110146-49110437	Hela-S3	cervix:	n/a	chr8:49110304-49110315
4	CEBPB	chr8:49110133-49110487	HepG2	liver:	n/a	chr8:49110304-49110315
5	CEBPB	chr8:49110168-49110450	K562	blood:	n/a	chr8:49110304-49110315

Variant related genes	Relation type
ENSG00000253843	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10086138	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10106082	0.84[ASN][1000 genomes]
rs10453133	0.83[AMR][1000 genomes]
rs10957003	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10958492	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779663	0.89[EUR][1000 genomes]
rs11781426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783152	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11783466	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783647	0.88[AFR][1000 genomes]
rs11783734	0.84[AFR][1000 genomes]
rs11786285	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12155524	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12155855	0.82[ASN][1000 genomes]
rs12550843	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12679335	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12681895	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12682398	0.82[ASN][1000 genomes]
rs13252104	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13265298	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35157243	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35975383	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3934733	0.83[ASN][1000 genomes]
rs3934735	0.83[ASN][1000 genomes]
rs3935535	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4072343	0.83[ASN][1000 genomes]
rs4242486	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4286973	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4291295	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4329299	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4357320	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4375031	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4392930	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4480143	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4526384	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4534147	0.92[YRI][hapmap]
rs4873081	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4873788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815183	0.92[YRI][hapmap]
rs7838270	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7844929	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs9650185	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9657169	0.84[AFR][1000 genomes];0.84[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:9 , 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	chr8:49105200-49111000	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:49106600-49111000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:49110000-49110600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:49110000-49114000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:49110200-49110400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:49110200-49111000	Enhancers	Spleen	Spleen
9	chr8:49110200-49111200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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