Variant report

Variant	rs2298803
Chromosome Location	chr1:159046430-159046431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:112)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:112 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr1:159046164-159047290	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:159046248-159047629	U87	brain:	n/a	n/a
3	POLR2A	chr1:159046218-159047553	GM15510	blood:	n/a	n/a
4	ELF1	chr1:159046275-159047457	GM12878	blood:	n/a	n/a
5	BCLAF1	chr1:159046183-159047596	GM12878	blood:	n/a	n/a
6	TAF1	chr1:159046386-159046808	GM12878	blood:	n/a	n/a
7	MYC	chr1:159046413-159047593	NB4	blood:	n/a	n/a
8	CEBPB	chr1:159046406-159047674	GM12878	blood:	n/a	n/a
9	YY1	chr1:159046169-159046857	GM12878	blood:	n/a	chr1:159046294-159046310
10	POLR2A	chr1:159046222-159047580	GM18951	blood:	n/a	n/a
11	POLR2A	chr1:159046083-159047593	GM12892	blood:	n/a	n/a
12	MAX	chr1:159046130-159047502	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:159046263-159047436	K562	blood:	n/a	n/a
14	POLR2A	chr1:159046239-159047653	GM12891	blood:	n/a	n/a
15	TBL1XR1	chr1:159045989-159047797	GM12878	blood:	n/a	n/a
16	MTA3	chr1:159046256-159047630	GM12878	blood:	n/a	n/a
17	RELA	chr1:159046339-159047619	GM12878	blood:	n/a	n/a
18	STAT5A	chr1:159046322-159047605	GM12878	blood:	n/a	chr1:159046737-159046748
19	BCL11A	chr1:159046394-159047507	GM12878	blood:	n/a	n/a
20	BATF	chr1:159046282-159047624	GM12878	blood:	n/a	n/a
21	RELA	chr1:159046178-159048034	GM18951	blood:	n/a	n/a
22	RELA	chr1:159046200-159047793	GM15510	blood:	n/a	n/a
23	WRNIP1	chr1:159046231-159047853	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:159046073-159047557	GM12892	blood:	n/a	n/a
25	POLR2A	chr1:159046286-159047830	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:159046146-159048461	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:159046181-159047554	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:159046043-159048043	GM12878	blood:	n/a	n/a
29	STAT1	chr1:159046363-159048018	Hela-S3	cervix:	n/a	chr1:159047092-159047103 chr1:159046737-159046748 chr1:159047113-159047124
30	TAF1	chr1:159046345-159046668	GM12878	blood:	n/a	n/a
31	EP300	chr1:159046345-159047792	GM12878	blood:	n/a	chr1:159046703-159046712
32	TBL1XR1	chr1:159046393-159047503	K562	blood:	n/a	n/a
33	STAT5A	chr1:159046402-159047649	K562	blood:	n/a	chr1:159046737-159046748
34	SP1	chr1:159046385-159047566	GM12878	blood:	n/a	n/a
35	RELA	chr1:159046203-159048021	GM12891	blood:	n/a	n/a
36	POLR2A	chr1:159046123-159047613	GM12892	blood:	n/a	n/a
37	POU2F2	chr1:159046235-159046722	GM12891	blood:	n/a	n/a
38	POU2F2	chr1:159046347-159047243	GM12878	blood:	n/a	n/a
39	ZNF384	chr1:159046421-159047379	K562	blood:	n/a	n/a
40	FOXM1	chr1:159046347-159047634	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:159046079-159047624	GM12892	blood:	n/a	n/a
42	IRF4	chr1:159046384-159047325	GM12878	blood:	n/a	n/a
43	YY1	chr1:159046251-159047571	GM12878	blood:	n/a	chr1:159046294-159046310
44	EBF1	chr1:159046400-159047197	GM12878	blood:	n/a	chr1:159046977-159046988
45	MAZ	chr1:159046067-159047593	GM12878	blood:	n/a	n/a
46	BHLHE40	chr1:159046197-159047803	GM12878	blood:	n/a	n/a
47	STAT1	chr1:159046189-159047520	GM12878	blood:	n/a	chr1:159047092-159047103 chr1:159046737-159046748 chr1:159047113-159047124
48	YY1	chr1:159046220-159047587	GM12878	blood:	n/a	chr1:159046294-159046310
49	NR2F2	chr1:159046329-159047669	K562	blood:	n/a	n/a
50	CHD1	chr1:159045777-159047568	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:159046391-159046441	HNPCEpiC	eye:	n/a
2	chr1:159046391-159046441	SK-N-MC	brain:	n/a
3	chr1:159046391-159046441	HRE	kidney:	n/a
4	chr1:159046391-159046441	GM12891	blood:	n/a
5	chr1:159046391-159046441	A549	lung:	n/a
6	chr1:159046391-159046441	K562	blood:	n/a
7	chr1:159046391-159046441	NHBE	bronchial:	n/a
8	chr1:159046391-159046441	AoSMC	blood vessel:	n/a
9	chr1:159046391-159046441	AG04449	skin:	fetal
10	chr1:159046391-159046441	NH-A	brain:	n/a
11	chr1:159046391-159046441	U87	brain:	n/a
12	chr1:159046391-159046441	HCM	heart:	n/a
13	chr1:159046391-159046441	AG10803	skin:	n/a
14	chr1:159046391-159046441	GM19239	blood:	n/a
15	chr1:159046391-159046441	HEEpiC	esophagus:	n/a
16	chr1:159046391-159046441	T-47D	breast:	n/a
17	chr1:159046391-159046441	HCF	heart:	n/a
18	chr1:159046391-159046441	BE2_C	brain:	n/a
19	chr1:159046391-159046441	HIPEpiC	eye:	n/a
20	chr1:159046391-159046441	Caco-2	colon:	n/a
21	chr1:159046391-159046441	AG09309	skin:	n/a
22	chr1:159046391-159046441	NB4	blood:	n/a
23	chr1:159046391-159046441	HRCEpiC	kidney:	n/a
24	chr1:159046391-159046441	SK-N-SH_RA	brain:	n/a
25	chr1:159046391-159046441	Hela-S3	cervix:	n/a
26	chr1:159046391-159046441	Hepatocyte	liver:	n/a
27	chr1:159046391-159046441	GM12878	blood:	n/a
28	chr1:159046391-159046441	NHDF-neo	bronchial:	n/a
29	chr1:159046391-159046441	AG09319	gingival:	n/a
30	chr1:159046391-159046441	SKMC	muscle:	n/a
31	chr1:159046391-159046441	HAEpiC	amniotic membrane:	n/a
32	chr1:159046391-159046441	HL-60	blood:	n/a
33	chr1:159046391-159046441	LNCaP	prostate:	n/a
34	chr1:159046391-159046441	HEK293	kidney:	embryo
35	chr1:159046391-159046441	SAEC	small airway:	n/a
36	chr1:159046391-159046441	H1-hESC	embryonic stem cell:	embryo
37	chr1:159046391-159046441	HMEC	breast:	n/a
38	chr1:159046391-159046441	NT2-D1	testis:	n/a
39	chr1:159046391-159046441	CMK	blood:	n/a
40	chr1:159046391-159046441	MCF10A-Er-Src	breast:	n/a
41	chr1:159046391-159046441	Jurkat	blood:	n/a
42	chr1:159046391-159046441	ProgFib	skin:	n/a
43	chr1:159046391-159046441	PANC-1	pancreas:	n/a
44	chr1:159046391-159046441	IMR90	lung:	fetal
45	chr1:159046391-159046441	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:159046391-159046441	HCPEpiC	choroid plexus:	n/a
47	chr1:159046391-159046441	PFSK-1	brain:	n/a
48	chr1:159046391-159046441	BJ	skin:	n/a
49	chr1:159046391-159046441	HRPEpiC	eye:	n/a
50	chr1:159046391-159046441	PrEC	prostate:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:159042502..159045008-chr1:159045227..159046853,2	K562	blood:
2	chr1:158656464..158659384-chr1:159045094..159048407,3	K562	blood:
3	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:

No data

Variant related genes	Relation type
AIM2	TF binding region
AIM2	CpG island
ENSG00000163554	Chromatin interaction
ENSG00000163568	Chromatin interaction
ENSG00000163565	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12098223	0.87[CHD][hapmap]
rs12124059	0.88[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs16841642	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16841682	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1772414	0.80[CHD][hapmap]
rs1935067	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2518562	0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2793845	0.87[ASN][1000 genomes]
rs2814770	0.82[CHD][hapmap]
rs2814771	0.90[CHD][hapmap]
rs2852695	0.82[CHB][hapmap]
rs3737522	0.87[CHD][hapmap]
rs3754460	0.87[CHD][hapmap]
rs3768513	0.87[CHD][hapmap]
rs41264457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55719948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55791394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs855865	1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs855871	0.86[GIH][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2298803	AIM2	cis	lymphoblastoid	seeQTL
rs2298803	ENSG00000163568	cis	multi-tissue	Pritchard
rs2298803	AIM2	Cis_1M	lymphoblastoid	RTeQTL
rs2298803	AIM2	cis	multi-tissue	Pritchard

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159038600-159056400	Weak transcription	Spleen	Spleen
2	chr1:159039000-159046600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:159044200-159047200	Active TSS	GM12878-XiMat	blood
4	chr1:159044600-159046600	Active TSS	Primary B cells from peripheral blood	blood
5	chr1:159044800-159047200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:159044800-159048200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:159045200-159047400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:159045400-159047600	Active TSS	Primary hematopoietic stem cells	blood
9	chr1:159045600-159046600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr1:159045800-159046600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr1:159045800-159046600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:159045800-159046600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:159045800-159046600	Active TSS	Duodenum Mucosa	Duodenum
14	chr1:159045800-159046600	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr1:159046000-159046600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:159046000-159046600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:159046000-159046600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:159046000-159048000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr1:159046200-159046600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr1:159046200-159046600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:159046200-159046600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:159046200-159046600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:159046200-159046600	Flanking Active TSS	Esophagus	oesophagus
24	chr1:159046200-159046800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr1:159046200-159047000	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:159046200-159047200	Enhancers	Placenta	Placenta
27	chr1:159046200-159047600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:159046200-159048000	Flanking Active TSS	K562	blood
29	chr1:159046200-159048000	Enhancers	NHDF-Ad	bronchial
30	chr1:159046200-159048200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:159046400-159046600	Enhancers	Osteobl	bone
32	chr1:159046400-159047000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:159046400-159047600	Active TSS	Primary B cells from cord blood	blood
34	chr1:159046400-159049400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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