Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:39966487-39967306	A549	lung:	n/a	n/a
2	POLR2A	chr8:39967034-39967297	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000253665	TF binding region

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10092175	0.86[ASN][1000 genomes]
rs10095401	0.87[ASN][1000 genomes]
rs10958600	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12678264	0.82[EUR][1000 genomes]
rs13255845	0.86[EUR][1000 genomes]
rs13265509	0.86[EUR][1000 genomes]
rs13269057	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13270586	0.86[EUR][1000 genomes]
rs13270901	0.86[EUR][1000 genomes]
rs13274781	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13275833	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13277306	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1471559	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1600689	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1600690	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2929084	0.86[ASN][1000 genomes]
rs2929085	0.87[ASN][1000 genomes]
rs2929086	0.86[ASN][1000 genomes]
rs2955924	0.87[ASN][1000 genomes]
rs2981179	0.85[ASN][1000 genomes]
rs34865389	0.86[EUR][1000 genomes]
rs34882203	0.85[EUR][1000 genomes]
rs35723433	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35905112	0.86[EUR][1000 genomes]
rs4299988	0.86[EUR][1000 genomes]
rs59707583	0.82[EUR][1000 genomes]
rs60545325	0.86[EUR][1000 genomes]
rs67207633	0.86[EUR][1000 genomes]
rs68103082	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7846287	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39951000-39968000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:39958000-39970800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:39959600-39976400	Weak transcription	Pancreas	Pancrea
4	chr8:39961800-39970400	Weak transcription	Placenta	Placenta
5	chr8:39962800-39968800	Weak transcription	Esophagus	oesophagus
6	chr8:39966200-39967400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:39966400-39967400	Enhancers	Stomach Mucosa	stomach
8	chr8:39966600-39967600	Enhancers	HUVEC	blood vessel
9	chr8:39966600-39968600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:39966600-39968800	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:39966600-39969000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:39966600-39969000	Weak transcription	A549	lung
13	chr8:39967000-39967400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:39967200-39971800	Weak transcription	Ovary	ovary

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