Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr9:97486911-97487210	HepG2	liver:	n/a	n/a
2	JUND	chr9:97486884-97487135	HepG2	liver:	n/a	chr9:97487010-97487021
3	FOSL2	chr9:97486848-97487196	HepG2	liver:	n/a	chr9:97487011-97487022
4	MXI1	chr9:97486986-97487268	HepG2	liver:	n/a	n/a
5	MAFF	chr9:97486937-97487209	HepG2	liver:	n/a	chr9:97487064-97487082
6	JUND	chr9:97486952-97487213	K562	blood:	n/a	chr9:97487010-97487021
7	FOXA1	chr9:97486914-97487186	HepG2	liver:	n/a	n/a
8	JUND	chr9:97486867-97487211	HepG2	liver:	n/a	chr9:97487010-97487021
9	MAFK	chr9:97486946-97487129	HepG2	liver:	n/a	chr9:97487065-97487080
10	FOSL2	chr9:97486784-97487171	HepG2	liver:	n/a	chr9:97487011-97487022
11	TEAD4	chr9:97486847-97487224	HepG2	liver:	n/a	n/a
12	MAFK	chr9:97486971-97487269	HepG2	liver:	n/a	chr9:97487065-97487080
13	TBP	chr9:97486929-97487099	HepG2	liver:	n/a	n/a
14	FOXA1	chr9:97486786-97487233	HepG2	liver:	n/a	n/a
15	FOXA2	chr9:97486912-97487223	HepG2	liver:	n/a	n/a
16	EP300	chr9:97486874-97487263	HepG2	liver:	n/a	chr9:97487249-97487263

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97476575..97480108-chr9:97483463..97488738,5	MCF-7	breast:
2	chr9:97484874..97487089-chr9:97487277..97488932,2	K562	blood:

Variant related genes	Relation type
C9orf3	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1016013	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10821401	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10993365	0.83[EUR][1000 genomes]
rs10993372	0.83[EUR][1000 genomes]
rs10993377	0.80[EUR][1000 genomes]
rs1751434	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs183066	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2584806	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28540393	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35487382	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs356131	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs356141	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs368138	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs391784	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs406654	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs446540	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4744369	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4744378	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7019720	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7026071	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7851726	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7866848	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1041922	chr9:97444976-97536753	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97479000-97488400	Weak transcription	Fetal Intestine Large	intestine
2	chr9:97483400-97488200	Weak transcription	Placenta	Placenta
3	chr9:97483600-97488400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:97483600-97488400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:97483600-97488600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:97483800-97488400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:97483800-97488400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:97483800-97488400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:97483800-97488400	Weak transcription	NHEK	skin
10	chr9:97484000-97488400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:97484000-97488400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:97484200-97488400	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:97484400-97488400	Weak transcription	Fetal Kidney	kidney
14	chr9:97484800-97488600	Weak transcription	NHDF-Ad	bronchial
15	chr9:97486600-97487200	Weak transcription	K562	blood
16	chr9:97486600-97487400	Enhancers	Hela-S3	cervix
17	chr9:97486600-97487800	Enhancers	Osteobl	bone
18	chr9:97486600-97488400	Enhancers	HepG2	liver
19	chr9:97487000-97487400	Enhancers	NH-A	brain

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