Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr7:140368076-140369097	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140365461..140369460-chr7:140370034..140373881,3	K562	blood:
2	chr7:140367204..140371045-chr7:140371353..140375077,7	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1106846	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11540284	0.82[EUR][1000 genomes]
rs11977567	0.88[EUR][1000 genomes]
rs28828674	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28896544	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907951	0.88[EUR][1000 genomes]
rs2907952	0.88[EUR][1000 genomes]
rs2930316	0.88[EUR][1000 genomes]
rs2930317	0.88[EUR][1000 genomes]
rs2930320	0.96[EUR][1000 genomes]
rs2930323	0.88[EUR][1000 genomes]
rs2930325	0.88[EUR][1000 genomes]
rs2930326	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930328	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930329	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930330	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930332	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968546	0.88[EUR][1000 genomes]
rs2968554	0.88[EUR][1000 genomes]
rs2968556	0.94[EUR][1000 genomes]
rs2968560	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464932	0.88[AFR][1000 genomes]
rs6969644	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6977496	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7785630	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7802537	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2908235	ADCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140365800-140372000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:140367400-140371800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:140367600-140370600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:140368000-140371800	Weak transcription	Fetal Kidney	kidney

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