Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr9:98792193-98792564	HepG2	liver:	n/a	chr9:98792372-98792390
2	MAFK	chr9:98792233-98792560	IMR90	lung:	n/a	chr9:98792373-98792388
3	MAFK	chr9:98792199-98792581	HepG2	liver:	n/a	chr9:98792373-98792388
4	NFYB	chr9:98792367-98792684	K562	blood:	n/a	n/a
5	MAFK	chr9:98792361-98792447	H1-hESC	embryonic stem cell:	n/a	chr9:98792373-98792388
6	MAFF	chr9:98792284-98792484	K562	blood:	n/a	chr9:98792372-98792390
7	MAFK	chr9:98792226-98792508	K562	blood:	n/a	chr9:98792373-98792388
8	MAFK	chr9:98792228-98792559	HepG2	liver:	n/a	chr9:98792373-98792388

No.	Distal block	Cell Line	Cell type
1	chr9:98783900..98786083-chr9:98790874..98793453,2	K562	blood:
2	chr9:98790248..98792722-chr9:98793401..98795775,2	MCF-7	breast:
3	chr9:98790389..98794152-chr9:98794649..98798124,5	K562	blood:

Variant related genes	Relation type
LINC00092	TF binding region
ENSG00000225194	Chromatin interaction

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1628930	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2296857	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs238	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs686604	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs689980	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690575	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7023522	0.87[EUR][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	nsv893599	chr9:98542410-98991254	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv524266	chr9:98780606-98804274	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1627425	LINC00476	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98789800-98793200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:98790000-98793600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:98790200-98792600	Weak transcription	Gastric	stomach
4	chr9:98790200-98793000	Weak transcription	Lung	lung
5	chr9:98790200-98793000	Weak transcription	Pancreas	Pancrea
6	chr9:98790200-98793200	Weak transcription	Brain Hippocampus Middle	brain
7	chr9:98790200-98793200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:98790200-98793400	Weak transcription	Right Ventricle	heart
9	chr9:98790200-98795800	Weak transcription	Esophagus	oesophagus
10	chr9:98790400-98793000	Weak transcription	Right Atrium	heart
11	chr9:98790400-98793800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:98790400-98794200	Weak transcription	Spleen	Spleen
13	chr9:98790600-98793200	Weak transcription	Brain Anterior Caudate	brain
14	chr9:98790800-98793400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:98790800-98810800	Weak transcription	Brain Angular Gyrus	brain
16	chr9:98791000-98793000	Weak transcription	Fetal Lung	lung
17	chr9:98791200-98793200	Weak transcription	Brain Substantia Nigra	brain
18	chr9:98791200-98796800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:98792000-98792800	Enhancers	Aorta	Aorta
20	chr9:98792000-98795200	Enhancers	Ovary	ovary
21	chr9:98792200-98793400	Weak transcription	A549	lung
22	chr9:98792400-98792600	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr9:98792400-98792800	Weak transcription	Liver	Liver

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