Variant report

Variant	rs1453558
Chromosome Location	chr17:38021652-38021653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38019552-38022062	GM12891	blood:	n/a	n/a
2	EP300	chr17:38021167-38022001	GM12878	blood:	n/a	chr17:38021879-38021893
3	ATF2	chr17:38021060-38022082	GM12878	blood:	n/a	n/a
4	STAT3	chr17:38020351-38021998	GM12878	blood:	n/a	n/a
5	RUNX3	chr17:38020895-38022090	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:38019648-38022019	GM18505	blood:	n/a	n/a
7	POLR2A	chr17:38019769-38021967	GM18951	blood:	n/a	n/a
8	TBP	chr17:38021117-38022083	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr17:38021127-38022028	GM12878	blood:	n/a	n/a
10	BCLAF1	chr17:38019864-38022044	GM12878	blood:	n/a	n/a
11	RELA	chr17:38021192-38022044	GM12878	blood:	n/a	n/a
12	SP1	chr17:38021616-38022080	GM12878	blood:	n/a	n/a
13	SPI1	chr17:38020970-38022287	GM12878	blood:	n/a	chr17:38021880-38021889 chr17:38021878-38021891
14	MEF2A	chr17:38021130-38022096	GM12878	blood:	n/a	chr17:38021801-38021815 chr17:38021851-38021865 chr17:38021803-38021814 chr17:38021240-38021255 chr17:38021799-38021820 chr17:38021846-38021867 chr17:38021799-38021820 chr17:38021801-38021816
15	IKZF1	chr17:38021063-38022068	GM12878	blood:	n/a	n/a
16	CEBPB	chr17:38021289-38022166	GM12878	blood:	n/a	n/a
17	NFATC1	chr17:38021083-38022039	GM12878	blood:	n/a	n/a
18	IRF4	chr17:38021577-38022146	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:38019684-38021913	GM19099	blood:	n/a	n/a
20	SMC3	chr17:38021215-38021910	GM12878	blood:	n/a	n/a
21	RELA	chr17:38019928-38021965	GM18526	blood:	n/a	n/a
22	BCL3	chr17:38021272-38022083	GM12878	blood:	n/a	n/a
23	EP300	chr17:38020253-38022082	GM12878	blood:	n/a	chr17:38021879-38021893 chr17:38020455-38020471 chr17:38020277-38020291 chr17:38021020-38021034 chr17:38020547-38020563
24	POLR2A	chr17:38020189-38021853	GM15510	blood:	n/a	n/a
25	ATF2	chr17:38021011-38022016	GM12878	blood:	n/a	n/a
26	MEF2C	chr17:38021022-38022041	GM12878	blood:	n/a	chr17:38021801-38021815 chr17:38021851-38021865 chr17:38021803-38021814 chr17:38021240-38021255 chr17:38021799-38021820 chr17:38021089-38021100 chr17:38021846-38021867 chr17:38021799-38021820 chr17:38021102-38021119 chr17:38021801-38021816 chr17:38021090-38021099
27	SPI1	chr17:38021630-38022076	GM12891	blood:	n/a	chr17:38021880-38021889 chr17:38021878-38021891
28	POLR2A	chr17:38019860-38021965	GM19193	blood:	n/a	n/a
29	RELA	chr17:38021149-38022039	GM18951	blood:	n/a	n/a
30	POLR2A	chr17:38019501-38022100	GM12878	blood:	n/a	n/a
31	POLR2A	chr17:38021088-38021810	GM12891	blood:	n/a	n/a
32	PML	chr17:38021601-38021927	GM12878	blood:	n/a	n/a
33	POLR2A	chr17:38019545-38021836	GM12878	blood:	n/a	n/a
34	NFATC1	chr17:38021146-38022029	GM12878	blood:	n/a	n/a
35	NFIC	chr17:38019476-38022542	GM12878	blood:	n/a	n/a
36	STAT5A	chr17:38020977-38022006	GM12878	blood:	n/a	n/a
37	RCOR1	chr17:38021088-38021996	GM12878	blood:	n/a	n/a
38	POLR2A	chr17:38019554-38022098	GM12892	blood:	n/a	n/a
39	POLR2A	chr17:38019854-38021879	GM12892	blood:	n/a	n/a
40	POLR2A	chr17:38021049-38021692	GM12892	blood:	n/a	n/a
41	PML	chr17:38019701-38022084	GM12878	blood:	n/a	n/a
42	SPI1	chr17:38021636-38022029	GM12891	blood:	n/a	chr17:38021880-38021889 chr17:38021878-38021891
43	MTA3	chr17:38020995-38022097	GM12878	blood:	n/a	n/a
44	NFIC	chr17:38020994-38022389	GM12878	blood:	n/a	n/a
45	RUNX3	chr17:38021115-38022013	GM12878	blood:	n/a	n/a
46	BATF	chr17:38021626-38022071	GM12878	blood:	n/a	n/a
47	BCLAF1	chr17:38021114-38022005	GM12878	blood:	n/a	n/a
48	MTA3	chr17:38019486-38022031	GM12878	blood:	n/a	n/a
49	RELA	chr17:38019961-38022080	GM19099	blood:	n/a	n/a
50	CUX1	chr17:38021172-38021958	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38021651-38021701	HAEpiC	amniotic membrane:	n/a
2	chr17:38021651-38021701	GM19239	blood:	n/a
3	chr17:38021651-38021701	HMEC	breast:	n/a
4	chr17:38021651-38021701	HEK293	kidney:	embryo
5	chr17:38021651-38021701	AG09309	skin:	n/a
6	chr17:38021651-38021701	AG09319	gingival:	n/a
7	chr17:38021651-38021701	K562	blood:	n/a
8	chr17:38021651-38021701	HRCEpiC	kidney:	n/a
9	chr17:38021651-38021701	H1-hESC	embryonic stem cell:	embryo
10	chr17:38021651-38021701	AG04449	skin:	fetal
11	chr17:38021651-38021701	NT2-D1	testis:	n/a
12	chr17:38021651-38021701	AG10803	skin:	n/a
13	chr17:38021651-38021701	CMK	blood:	n/a
14	chr17:38021651-38021701	PFSK-1	brain:	n/a
15	chr17:38021651-38021701	AoSMC	blood vessel:	n/a
16	chr17:38021651-38021701	Hepatocyte	liver:	n/a
17	chr17:38021651-38021701	HRE	kidney:	n/a
18	chr17:38021651-38021701	A549	lung:	n/a
19	chr17:38021651-38021701	SK-N-SH_RA	brain:	n/a
20	chr17:38021651-38021701	PANC-1	pancreas:	n/a
21	chr17:38021651-38021701	NH-A	brain:	n/a
22	chr17:38021651-38021701	SK-N-MC	brain:	n/a
23	chr17:38021651-38021701	PrEC	prostate:	n/a
24	chr17:38021651-38021701	HNPCEpiC	eye:	n/a
25	chr17:38021651-38021701	GM12891	blood:	n/a
26	chr17:38021651-38021701	U87	brain:	n/a
27	chr17:38021651-38021701	HPAEpiC	pulmonary alveolar:	n/a
28	chr17:38021651-38021701	ECC-1	luminal epithelium:	n/a
29	chr17:38021651-38021701	HRPEpiC	eye:	n/a
30	chr17:38021651-38021701	MCF-7	breast:	n/a
31	chr17:38021651-38021701	GM06990	blood:	n/a
32	chr17:38021651-38021701	LNCaP	prostate:	n/a
33	chr17:38021651-38021701	MCF10A-Er-Src	breast:	n/a
34	chr17:38021651-38021701	Caco-2	colon:	n/a
35	chr17:38021651-38021701	RPTEC	kidney:	n/a
36	chr17:38021651-38021701	BJ	skin:	n/a
37	chr17:38021651-38021701	HCM	heart:	n/a
38	chr17:38021651-38021701	NHBE	bronchial:	n/a
39	chr17:38021651-38021701	HCPEpiC	choroid plexus:	n/a
40	chr17:38021651-38021701	HepG2	liver:	n/a
41	chr17:38021651-38021701	BE2_C	brain:	n/a
42	chr17:38021651-38021701	SAEC	small airway:	n/a
43	chr17:38021651-38021701	HIPEpiC	eye:	n/a
44	chr17:38021651-38021701	NHDF-neo	bronchial:	n/a
45	chr17:38021651-38021701	Jurkat	blood:	n/a
46	chr17:38021651-38021701	AG04450	lung:	fetal
47	chr17:38021651-38021701	HCF	heart:	n/a
48	chr17:38021651-38021701	ovcar-3	ovarian:	n/a
49	chr17:38021651-38021701	IMR90	lung:	fetal
50	chr17:38021651-38021701	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38016485..38022109-chr17:38022345..38027890,7	K562	blood:

Variant related genes	Relation type
ZPBP2	TF binding region
IKZF3	TF binding region
ZPBP2	CpG island
IKZF3	CpG island
ENSG00000186075	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16965388	1.00[LWK][hapmap];0.98[MKK][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28623237	1.00[EUR][1000 genomes]
rs59246468	1.00[EUR][1000 genomes]
rs73985216	0.85[AMR][1000 genomes]
rs73985217	0.85[AMR][1000 genomes]
rs73985221	1.00[EUR][1000 genomes]
rs73985222	1.00[EUR][1000 genomes]
rs73985223	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985224	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985226	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985227	1.00[EUR][1000 genomes]
rs73985229	1.00[EUR][1000 genomes]
rs73985230	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071135	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv1795575	chr17:37974075-38041762	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38020400-38021800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
2	chr17:38020400-38022800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr17:38020600-38024200	Weak transcription	Spleen	Spleen
4	chr17:38020800-38021800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:38020800-38022000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr17:38020800-38022400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr17:38020800-38023600	Weak transcription	Esophagus	oesophagus
8	chr17:38020800-38023800	Weak transcription	Pancreas	Pancrea
9	chr17:38021000-38022000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr17:38021000-38024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:38021200-38022000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr17:38021200-38022400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr17:38021200-38022800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr17:38021200-38023200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr17:38021200-38023400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:38021200-38023600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:38021400-38021800	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr17:38021400-38021800	Flanking Active TSS	GM12878-XiMat	blood
19	chr17:38021400-38021800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr17:38021400-38022400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:38021400-38022600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr17:38021400-38023200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr17:38021400-38024200	Enhancers	Primary T cells from cord blood	blood
24	chr17:38021600-38022200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:38021600-38023600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:38021600-38024000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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