Variant report

Variant	rs9332484
Chromosome Location	chr1:169555819-169555820
allele	A/G
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	chr1:169555500-169555874	MCF-7	breast:	n/a	n/a
2	PAX5	chr1:169555535-169555853	GM12892	blood:	n/a	n/a
3	NFIC	chr1:169555611-169556264	HepG2	liver:	n/a	n/a
4	CTCF	chr1:169555487-169555989	MCF-7	breast:	n/a	chr1:169555637-169555650 chr1:169555902-169555910
5	CTCF	chr1:169555760-169555910	BE2_C	brain:	n/a	chr1:169555902-169555910
6	CTCF	chr1:169555586-169555869	GM19240	blood:	n/a	chr1:169555637-169555650
7	CTCF	chr1:169555680-169555830	GM12867	blood:	n/a	n/a
8	SMC3	chr1:169555348-169556018	SK-N-SH	brain:	n/a	n/a
9	SMC3	chr1:169555612-169556482	HepG2	liver:	n/a	n/a
10	RAD21	chr1:169555440-169556000	H1-hESC	embryonic stem cell:	n/a	chr1:169555778-169555792 chr1:169555634-169555648
11	CTCF	chr1:169555578-169555871	MCF-7	breast:	n/a	chr1:169555637-169555650
12	POLR2A	chr1:169555407-169556321	HepG2	liver:	n/a	n/a
13	CTCF	chr1:169555700-169555850	GM06990	blood:	n/a	n/a
14	CTCF	chr1:169555536-169555880	MCF-7	breast:	n/a	chr1:169555637-169555650
15	CTCF	chr1:169555720-169555870	NHLF	lung:	n/a	n/a
16	TAF1	chr1:169555645-169555842	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr1:169555519-169555885	A549	lung:	n/a	chr1:169555637-169555650
18	JUND	chr1:169555574-169555852	HepG2	liver:	n/a	n/a
19	CTCF	chr1:169555680-169555830	SAEC	small airway:	n/a	n/a
20	SIN3AK20	chr1:169555561-169555871	HepG2	liver:	n/a	n/a
21	RAD21	chr1:169555581-169555916	IMR90	lung:	n/a	chr1:169555778-169555792 chr1:169555634-169555648
22	RCOR1	chr1:169555519-169556512	HepG2	liver:	n/a	n/a
23	CTCF	chr1:169555610-169555865	SK-N-SH_RA	brain:	n/a	chr1:169555637-169555650
24	CTCF	chr1:169555680-169555830	AG04449	skin:	n/a	n/a
25	CTCF	chr1:169555571-169555871	GM12891	blood:	n/a	chr1:169555637-169555650
26	EP300	chr1:169555617-169555877	HepG2	liver:	n/a	chr1:169555635-169555651 chr1:169555792-169555805
27	STAT1	chr1:169555588-169555880	GM12878	blood:	n/a	n/a
28	CTCF	chr1:169555564-169555871	NHEK	skin:	n/a	chr1:169555637-169555650
29	CTCF	chr1:169555700-169555850	Hela-S3	cervix:	n/a	n/a
30	MAX	chr1:169555469-169555888	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:169555606-169555835	GM13977	blood:	n/a	chr1:169555637-169555650
32	POLR2A	chr1:169555446-169556328	HepG2	liver:	n/a	n/a
33	FOS	chr1:169555725-169555832	MCF10A-Er-Src	breast:	n/a	n/a
34	CTCF	chr1:169555640-169555826	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:169555497-169555878	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr1:169555526-169555940	K562	blood:	n/a	chr1:169555637-169555650 chr1:169555902-169555910
37	CTCF	chr1:169555560-169555866	GM19239	blood:	n/a	chr1:169555637-169555650
38	RAD21	chr1:169555591-169555898	GM12878	blood:	n/a	chr1:169555778-169555792 chr1:169555634-169555648
39	RAD21	chr1:169555460-169556071	MCF-7	breast:	n/a	chr1:169555778-169555792 chr1:169556036-169556049 chr1:169555634-169555648
40	CTCF	chr1:169555680-169555830	HEEpiC	esophagus:	n/a	n/a
41	UBTF	chr1:169555653-169555857	K562	blood:	n/a	n/a
42	HEY1	chr1:169555476-169556329	HepG2	liver:	n/a	n/a
43	STAT3	chr1:169555640-169555950	MCF10A-Er-Src	breast:	n/a	chr1:169555820-169555831
44	RFX5	chr1:169555623-169555919	GM12878	blood:	n/a	n/a
45	TCF3	chr1:169555559-169555864	GM12878	blood:	n/a	n/a
46	CTCF	chr1:169555513-169555940	H1-hESC	embryonic stem cell:	n/a	chr1:169555637-169555650 chr1:169555902-169555910
47	RAD21	chr1:169555509-169556176	H1-hESC	embryonic stem cell:	n/a	chr1:169555778-169555792 chr1:169556036-169556049 chr1:169555634-169555648
48	CTCF	chr1:169555581-169555909	IMR90	lung:	n/a	chr1:169555637-169555650
49	RAD21	chr1:169555595-169555881	Hela-S3	cervix:	n/a	chr1:169555778-169555792 chr1:169555634-169555648
50	SMC3	chr1:169555605-169555871	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:169555773-169555823	PANC-1	pancreas:	n/a
2	chr1:169555805-169555855	HNPCEpiC	eye:	n/a
3	chr1:169555773-169555823	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:169555805-169555855	GM12892	blood:	n/a
5	chr1:169555773-169555823	BE2_C	brain:	n/a
6	chr1:169555773-169555823	A549	lung:	n/a
7	chr1:169555805-169555855	NH-A	brain:	n/a
8	chr1:169555773-169555823	AG04450	lung:	fetal
9	chr1:169555805-169555855	AG10803	skin:	n/a
10	chr1:169555805-169555855	GM06990	blood:	n/a
11	chr1:169555773-169555823	T-47D	breast:	n/a
12	chr1:169555773-169555823	SK-N-SH_RA	brain:	n/a
13	chr1:169555773-169555823	ProgFib	skin:	n/a
14	chr1:169555805-169555855	HCF	heart:	n/a
15	chr1:169555773-169555823	HRPEpiC	eye:	n/a
16	chr1:169555805-169555855	NHDF-neo	bronchial:	n/a
17	chr1:169555805-169555855	Hepatocyte	liver:	n/a
18	chr1:169555773-169555823	HRCEpiC	kidney:	n/a
19	chr1:169555805-169555855	HRPEpiC	eye:	n/a
20	chr1:169555805-169555855	GM12891	blood:	n/a
21	chr1:169555773-169555823	HIPEpiC	eye:	n/a
22	chr1:169555805-169555855	HEEpiC	esophagus:	n/a
23	chr1:169555805-169555855	K562	blood:	n/a
24	chr1:169555805-169555855	HCT-116	colon:	n/a
25	chr1:169555805-169555855	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:169555773-169555823	PFSK-1	brain:	n/a
27	chr1:169555773-169555823	HRE	kidney:	n/a
28	chr1:169555773-169555823	HCT-116	colon:	n/a
29	chr1:169555805-169555855	T-47D	breast:	n/a
30	chr1:169555773-169555823	ovcar-3	ovarian:	n/a
31	chr1:169555773-169555823	PrEC	prostate:	n/a
32	chr1:169555773-169555823	AG09319	gingival:	n/a
33	chr1:169555773-169555823	MCF-7	breast:	n/a
34	chr1:169555773-169555823	GM12878	blood:	n/a
35	chr1:169555805-169555855	U87	brain:	n/a
36	chr1:169555773-169555823	HepG2	liver:	n/a
37	chr1:169555773-169555823	HCPEpiC	choroid plexus:	n/a
38	chr1:169555805-169555855	HCM	heart:	n/a
39	chr1:169555773-169555823	SK-N-SH	brain:	n/a
40	chr1:169555805-169555855	AoSMC	blood vessel:	n/a
41	chr1:169555805-169555855	IMR90	lung:	fetal
42	chr1:169555773-169555823	LNCaP	prostate:	n/a
43	chr1:169555773-169555823	GM12892	blood:	n/a
44	chr1:169555773-169555823	Hela-S3	cervix:	n/a
45	chr1:169555805-169555855	AG04449	skin:	fetal
46	chr1:169555773-169555823	HMEC	breast:	n/a
47	chr1:169555805-169555855	SAEC	small airway:	n/a
48	chr1:169555805-169555855	AG09309	skin:	n/a
49	chr1:169555805-169555855	Caco-2	colon:	n/a
50	chr1:169555805-169555855	PrEC	prostate:	n/a

Variant related genes	Relation type
F5	TF binding region
F5	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2228672	1.00[AMR][1000 genomes]
rs3917725	1.00[AMR][1000 genomes]
rs3917746	1.00[AMR][1000 genomes]
rs3917758	1.00[AMR][1000 genomes]
rs3917791	1.00[AMR][1000 genomes]
rs3917798	1.00[AMR][1000 genomes]
rs3917808	1.00[AMR][1000 genomes]
rs3917809	1.00[AMR][1000 genomes]
rs3917822	1.00[AMR][1000 genomes]
rs3917825	1.00[AMR][1000 genomes]
rs3917829	1.00[AMR][1000 genomes]
rs3917834	0.88[AFR][1000 genomes]
rs74121678	1.00[AMR][1000 genomes]
rs74121680	1.00[AMR][1000 genomes]
rs9332479	0.88[YRI][hapmap]
rs9332481	1.00[AMR][1000 genomes]
rs9332487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332495	1.00[AMR][1000 genomes]
rs9332512	1.00[AMR][1000 genomes]
rs9332521	1.00[AMR][1000 genomes]
rs9332551	1.00[AMR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv548187	chr1:169530837-169559035	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv872534	chr1:169533266-169561274	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169554800-169556000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:169554800-169556200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:169554800-169556200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:169554800-169556400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr1:169555000-169556000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr1:169555000-169556000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:169555000-169556000	Bivalent/Poised TSS	HepG2	liver
8	chr1:169555000-169556200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr1:169555200-169556200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr1:169555200-169556200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr1:169555400-169556000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:169555400-169556000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:169555400-169556000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:169555400-169556000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr1:169555400-169556000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr1:169555400-169556000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr1:169555400-169556000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:169555400-169556000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:169555400-169556000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:169555400-169556000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:169555400-169556000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
22	chr1:169555400-169556000	Active TSS	Colonic Mucosa	Colon
23	chr1:169555400-169556000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr1:169555400-169556000	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr1:169555400-169556000	Flanking Active TSS	Placenta	Placenta
26	chr1:169555400-169556000	Flanking Active TSS	Left Ventricle	heart
27	chr1:169555400-169556000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr1:169555400-169556000	Active TSS	Rectal Smooth Muscle	rectum
29	chr1:169555400-169556000	Flanking Active TSS	Right Atrium	heart
30	chr1:169555400-169556000	Enhancers	Spleen	Spleen
31	chr1:169555400-169556000	Enhancers	HMEC	breast
32	chr1:169555400-169556200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:169555400-169556200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:169555400-169556200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:169555400-169556200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:169555400-169556200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:169555400-169556200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:169555400-169556200	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr1:169555400-169556200	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr1:169555400-169556200	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr1:169555400-169556200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr1:169555400-169556200	Enhancers	Lung	lung
43	chr1:169555400-169556200	Enhancers	Pancreas	Pancrea
44	chr1:169555400-169556200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:169555400-169556200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr1:169555400-169556200	Flanking Active TSS	Dnd41	blood
47	chr1:169555400-169556400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:169555400-169556400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:169555400-169556400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:169555600-169556000	Bivalent/Poised TSS	Aorta	Aorta

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