Variant report

Variant	rs17244544
Chromosome Location	chr17:45810742-45810743
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	CTCF	chr17:45810720-45810870	GM12874	blood:	n/a	chr17:45810724-45810737 chr17:45810725-45810735
2	TCF3	chr17:45810514-45810750	GM12878	blood:	n/a	n/a
3	ZNF143	chr17:45810316-45810890	GM12878	blood:	n/a	n/a
4	ELF1	chr17:45810193-45812641	GM12878	blood:	n/a	chr17:45810682-45810694
5	MAX	chr17:45810726-45811054	ECC-1	luminal epithelium:	n/a	n/a
6	UBTF	chr17:45810462-45810764	K562	blood:	n/a	n/a
7	SPI1	chr17:45810417-45810776	HL-60	blood:	n/a	chr17:45810621-45810628
8	CTCF	chr17:45810306-45810810	K562	blood:	n/a	chr17:45810724-45810737 chr17:45810725-45810735
9	POLR2A	chr17:45810426-45810830	GM15510	blood:	n/a	n/a
10	ZBTB7A	chr17:45810352-45810833	K562	blood:	n/a	chr17:45810453-45810461
11	TCF3	chr17:45810425-45810822	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:45810400-45810972	GM18526	blood:	n/a	n/a
13	MAX	chr17:45810342-45810835	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:45810232-45813472	GM18505	blood:	n/a	n/a
15	STAT5A	chr17:45810230-45810758	GM12878	blood:	n/a	n/a
16	CTCF	chr17:45810305-45810910	K562	blood:	n/a	chr17:45810724-45810737 chr17:45810725-45810735
17	MAZ	chr17:45810272-45810830	GM12878	blood:	n/a	n/a
18	MXI1	chr17:45809634-45811557	SK-N-SH	brain:	n/a	chr17:45811453-45811468
19	POLR2A	chr17:45810480-45811045	GM12878	blood:	n/a	n/a
20	MTA3	chr17:45810142-45810957	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:45810429-45810808	GM12878	blood:	n/a	n/a
22	TBP	chr17:45810438-45810761	GM12878	blood:	n/a	n/a
23	RAD21	chr17:45810317-45810784	HepG2	liver:	n/a	chr17:45810609-45810622 chr17:45810724-45810734
24	MXI1	chr17:45810490-45810820	GM12878	blood:	n/a	n/a
25	SUZ12	chr17:45810697-45811871	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOXM1	chr17:45810184-45810758	GM12878	blood:	n/a	n/a
27	MAX	chr17:45810223-45810843	A549	lung:	n/a	n/a
28	CTCF	chr17:45810700-45810850	GM12873	blood:	n/a	chr17:45810724-45810737 chr17:45810725-45810735
29	RUNX3	chr17:45810244-45810752	GM12878	blood:	n/a	n/a
30	POU2F2	chr17:45810212-45810841	GM12878	blood:	n/a	chr17:45810722-45810734 chr17:45810725-45810737
31	POLR2A	chr17:45810318-45810919	GM12878	blood:	n/a	n/a
32	JUND	chr17:45810415-45810800	A549	lung:	n/a	n/a
33	PML	chr17:45810259-45810880	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:45810401-45810862	GM12878	blood:	n/a	n/a
35	POLR2A	chr17:45810434-45810984	GM12878	blood:	n/a	n/a
36	POLR2A	chr17:45810358-45810857	GM19099	blood:	n/a	n/a
37	POLR2A	chr17:45810230-45810919	GM12878	blood:	n/a	n/a
38	MAX	chr17:45810090-45811176	A549	lung:	n/a	n/a
39	POLR2A	chr17:45810408-45811345	GM18951	blood:	n/a	n/a
40	E2F6	chr17:45810353-45811206	A549	lung:	n/a	chr17:45810722-45810731
41	POLR2A	chr17:45810350-45812592	GM12878	blood:	n/a	n/a
42	EBF1	chr17:45810358-45811282	GM12878	blood:	n/a	n/a
43	SIN3A	chr17:45810416-45810982	GM12878	blood:	n/a	n/a
44	MAX	chr17:45810228-45811422	HepG2	liver:	n/a	n/a
45	ZBTB7A	chr17:45810640-45811098	ECC-1	luminal epithelium:	n/a	n/a
46	CHD1	chr17:45810292-45813396	GM12878	blood:	n/a	chr17:45812764-45812774 chr17:45811750-45811760
47	SIN3AK20	chr17:45810284-45810815	PANC-1	pancreas:	n/a	n/a
48	TAF1	chr17:45810380-45810744	GM12878	blood:	n/a	n/a
49	RUNX3	chr17:45810109-45810924	GM12878	blood:	n/a	n/a
50	POLR2A	chr17:45810397-45810836	GM19193	blood:	n/a	n/a

Variant related genes	Relation type
TBX21	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12450008	0.92[EUR][1000 genomes]
rs12451682	0.92[EUR][1000 genomes]
rs12452307	0.92[EUR][1000 genomes]
rs16946878	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17250953	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17772855	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17773055	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41407050	0.92[EUR][1000 genomes]
rs72648867	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72648868	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72648869	0.86[AMR][1000 genomes];0.96[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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45799200-45810800	Weak transcription	Gastric	stomach
2	chr17:45809000-45810800	Bivalent Enhancer	Fetal Thymus	thymus
3	chr17:45809600-45810800	Enhancers	Spleen	Spleen
4	chr17:45810000-45811000	Bivalent Enhancer	Lung	lung
5	chr17:45810000-45812200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr17:45810200-45810800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:45810200-45810800	Active TSS	Right Ventricle	heart
8	chr17:45810200-45810800	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr17:45810200-45811200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr17:45810200-45811400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:45810200-45811600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr17:45810200-45811600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:45810200-45811600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr17:45810200-45811800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr17:45810200-45811800	Bivalent Enhancer	Fetal Heart	heart
16	chr17:45810400-45810800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:45810400-45810800	Enhancers	Primary T cells from cord blood	blood
18	chr17:45810400-45810800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:45810400-45810800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr17:45810400-45810800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr17:45810400-45810800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr17:45810400-45810800	Bivalent/Poised TSS	Ovary	ovary
23	chr17:45810400-45810800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
24	chr17:45810400-45811000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr17:45810400-45811200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr17:45810400-45811200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
27	chr17:45810400-45811200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr17:45810400-45811200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr17:45810400-45811200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
30	chr17:45810400-45811200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr17:45810400-45811200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr17:45810400-45811400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr17:45810400-45811400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr17:45810400-45811400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr17:45810400-45811400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr17:45810400-45811400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr17:45810400-45811400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr17:45810400-45811400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:45810400-45811400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:45810400-45811400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:45810400-45811400	Active TSS	Right Atrium	heart
42	chr17:45810400-45811400	Bivalent/Poised TSS	A549	lung
43	chr17:45810400-45811600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr17:45810400-45811600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr17:45810400-45811600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr17:45810400-45811600	Bivalent Enhancer	Fetal Brain Male	brain
47	chr17:45810400-45811600	Bivalent/Poised TSS	Fetal Brain Female	brain
48	chr17:45810400-45811800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr17:45810400-45811800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr17:45810400-45811800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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