Variant report

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:159049420-159049570	NHEK	skin:	n/a	n/a
2	CTCF	chr1:159049460-159049610	GM12874	blood:	n/a	n/a
3	CTCF	chr1:159049420-159049570	GM12870	blood:	n/a	n/a
4	ATF1	chr1:159049446-159049647	K562	blood:	n/a	n/a
5	CTCF	chr1:159049425-159049526	K562	blood:	n/a	n/a
6	CTCF	chr1:159049420-159049570	GM12873	blood:	n/a	n/a
7	CTCF	chr1:159049420-159049570	HCT-116	colon:	n/a	n/a
8	MAFF	chr1:159049232-159049612	K562	blood:	n/a	n/a
9	CTCF	chr1:159049400-159049550	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr1:159049360-159049510	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr1:159049423-159049614	Gliobla	brain:	n/a	n/a
12	CTCF	chr1:159049447-159049551	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:159049460-159049610	HEK293	kidney:	n/a	n/a
14	TAL1	chr1:159049360-159049604	K562	blood:	n/a	n/a
15	CTCF	chr1:159049440-159049590	GM12872	blood:	n/a	n/a
16	GATA1	chr1:159049210-159049754	PBDE	blood:	n/a	n/a
17	CTCF	chr1:159049380-159049530	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr1:159049380-159049530	HBMEC	blood vessel:	n/a	n/a
19	MAFK	chr1:159049230-159049656	K562	blood:	n/a	n/a
20	CTCF	chr1:159049440-159049590	HMF	breast:	n/a	n/a
21	CTCF	chr1:159049455-159049485	GM13976	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159045143..159047906-chr1:159048588..159051192,2	K562	blood:
2	chr1:159048113..159051506-chr1:159051695..159053675,3	K562	blood:

No data

Variant related genes	Relation type
AIM2	TF binding region
ENSG00000163568	Chromatin interaction

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12124059	0.83[ASN][1000 genomes]
rs16841642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16841682	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1935067	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298803	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2518562	0.96[ASN][1000 genomes]
rs2793845	0.87[ASN][1000 genomes]
rs41264457	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55791394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855865	0.83[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	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55719948	AIM2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159038600-159056400	Weak transcription	Spleen	Spleen
2	chr1:159047000-159051000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:159048000-159051000	Weak transcription	NHDF-Ad	bronchial
4	chr1:159048000-159053600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:159048200-159053600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:159048400-159052400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:159048800-159051200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:159049000-159052200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:159049400-159050000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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