Variant report

Variant	rs9332483
Chromosome Location	chr1:169556045-169556046
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:169555611-169556264	HepG2	liver:	n/a	n/a
2	CTCF	chr1:169555999-169556079	GM19239	blood:	n/a	n/a
3	SMC3	chr1:169555612-169556482	HepG2	liver:	n/a	n/a
4	MYC	chr1:169556014-169556065	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:169555407-169556321	HepG2	liver:	n/a	n/a
6	CTCF	chr1:169555995-169556084	MCF-7	breast:	n/a	n/a
7	RCOR1	chr1:169555519-169556512	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:169555446-169556328	HepG2	liver:	n/a	n/a
9	RAD21	chr1:169555460-169556071	MCF-7	breast:	n/a	chr1:169555778-169555792 chr1:169556036-169556049 chr1:169555634-169555648
10	HEY1	chr1:169555476-169556329	HepG2	liver:	n/a	n/a
11	RAD21	chr1:169555509-169556176	H1-hESC	embryonic stem cell:	n/a	chr1:169555778-169555792 chr1:169556036-169556049 chr1:169555634-169555648
12	ZNF384	chr1:169556005-169556287	GM12878	blood:	n/a	n/a
13	RFX5	chr1:169555615-169556057	HepG2	liver:	n/a	n/a
14	NFIC	chr1:169555576-169556350	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:169555035-169556504	HepG2	liver:	n/a	n/a
16	MBD4	chr1:169555497-169556209	HepG2	liver:	n/a	n/a
17	CTCF	chr1:169556007-169556055	GM12891	blood:	n/a	n/a
18	ARID3A	chr1:169555576-169556383	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:169554970-169556375	HepG2	liver:	n/a	n/a
20	YY1	chr1:169555380-169556078	HepG2	liver:	n/a	n/a
21	CTCF	chr1:169555439-169556131	HCT-116	colon:	n/a	chr1:169555637-169555650 chr1:169555902-169555910
22	CTCF	chr1:169556003-169556090	Fibrobl	skin:	n/a	n/a
23	CTCF	chr1:169556007-169556104	ProgFib	skin:	n/a	n/a
24	RAD21	chr1:169555440-169556077	HCT-116	colon:	n/a	chr1:169555778-169555792 chr1:169556036-169556049 chr1:169555634-169555648
25	RAD21	chr1:169555375-169556163	HCT-116	colon:	n/a	chr1:169555778-169555792 chr1:169556036-169556049 chr1:169555634-169555648
26	CHD2	chr1:169555560-169556175	HepG2	liver:	n/a	n/a
27	BRCA1	chr1:169555543-169556228	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:169555493-169556327	HepG2	liver:	n/a	n/a
29	TAF1	chr1:169555414-169556102	HepG2	liver:	n/a	n/a
30	HDAC2	chr1:169555546-169556058	HepG2	liver:	n/a	n/a
31	POLR2A	chr1:169555970-169556088	MCF-7	breast:	n/a	n/a
32	RAD21	chr1:169555408-169556235	SK-N-SH	brain:	n/a	chr1:169555778-169555792 chr1:169556036-169556049 chr1:169555634-169555648
33	KAP1	chr1:169555556-169556061	HEK293	kidney:	n/a	n/a
34	MBD4	chr1:169555456-169556068	HepG2	liver:	n/a	n/a
35	CTCF	chr1:169555957-169556051	Gliobla	brain:	n/a	n/a
36	CTCF	chr1:169555991-169556070	A549	lung:	n/a	n/a
37	CTCF	chr1:169555980-169556130	GM12874	blood:	n/a	n/a
38	HEY1	chr1:169555373-169556350	HepG2	liver:	n/a	n/a
39	MAX	chr1:169555378-169556571	HepG2	liver:	n/a	n/a
40	MYC	chr1:169556018-169556061	MCF-7	breast:	n/a	n/a
41	RAD21	chr1:169555492-169556075	MCF-7	breast:	n/a	chr1:169555778-169555792 chr1:169556036-169556049 chr1:169555634-169555648
42	CTCF	chr1:169555979-169556091	MCF-7	breast:	n/a	n/a
43	MYBL2	chr1:169555375-169556468	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:169555456-169556104	HepG2	liver:	n/a	n/a
45	CTCF	chr1:169555383-169556090	A549	lung:	n/a	chr1:169555637-169555650 chr1:169555902-169555910
46	CTCF	chr1:169555967-169556067	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:169555320-169556238	SK-N-SH	brain:	n/a	chr1:169555637-169555650 chr1:169555902-169555910
48	MXI1	chr1:169555418-169556371	HepG2	liver:	n/a	n/a
49	RAD21	chr1:169555510-169556103	HepG2	liver:	n/a	chr1:169555778-169555792 chr1:169556036-169556049 chr1:169555634-169555648
50	CTCF	chr1:169556014-169556071	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:169556022-169556072	AG04449	skin:	fetal
2	chr1:169556022-169556072	HRPEpiC	eye:	n/a
3	chr1:169556022-169556072	T-47D	breast:	n/a
4	chr1:169556022-169556072	NHDF-neo	bronchial:	n/a
5	chr1:169556022-169556072	K562	blood:	n/a
6	chr1:169556022-169556072	CMK	blood:	n/a
7	chr1:169556022-169556072	ECC-1	luminal epithelium:	n/a
8	chr1:169556022-169556072	LNCaP	prostate:	n/a
9	chr1:169556022-169556072	HCT-116	colon:	n/a
10	chr1:169556022-169556072	HCM	heart:	n/a
11	chr1:169556022-169556072	RPTEC	kidney:	n/a
12	chr1:169556022-169556072	HL-60	blood:	n/a
13	chr1:169556022-169556072	HIPEpiC	eye:	n/a
14	chr1:169556022-169556072	SK-N-SH	brain:	n/a
15	chr1:169556022-169556072	SAEC	small airway:	n/a
16	chr1:169556022-169556072	HRCEpiC	kidney:	n/a
17	chr1:169556022-169556072	Hepatocyte	liver:	n/a
18	chr1:169556022-169556072	HEK293	kidney:	embryo
19	chr1:169556022-169556072	Jurkat	blood:	n/a
20	chr1:169556022-169556072	GM06990	blood:	n/a
21	chr1:169556022-169556072	Caco-2	colon:	n/a
22	chr1:169556022-169556072	HMEC	breast:	n/a
23	chr1:169556022-169556072	NB4	blood:	n/a
24	chr1:169556022-169556072	A549	lung:	n/a
25	chr1:169556022-169556072	GM12878	blood:	n/a
26	chr1:169556022-169556072	SK-N-SH_RA	brain:	n/a
27	chr1:169556022-169556072	NH-A	brain:	n/a
28	chr1:169556022-169556072	SKMC	muscle:	n/a
29	chr1:169556022-169556072	NHBE	bronchial:	n/a
30	chr1:169556022-169556072	BE2_C	brain:	n/a
31	chr1:169556022-169556072	PrEC	prostate:	n/a
32	chr1:169556022-169556072	HRE	kidney:	n/a
33	chr1:169556022-169556072	Hela-S3	cervix:	n/a
34	chr1:169556022-169556072	IMR90	lung:	fetal
35	chr1:169556022-169556072	GM19239	blood:	n/a
36	chr1:169556022-169556072	AG10803	skin:	n/a
37	chr1:169556022-169556072	U87	brain:	n/a
38	chr1:169556022-169556072	H1-hESC	embryonic stem cell:	embryo
39	chr1:169556022-169556072	BJ	skin:	n/a
40	chr1:169556022-169556072	HAEpiC	amniotic membrane:	n/a
41	chr1:169556022-169556072	HepG2	liver:	n/a
42	chr1:169556022-169556072	ProgFib	skin:	n/a
43	chr1:169556022-169556072	HCPEpiC	choroid plexus:	n/a
44	chr1:169556022-169556072	PANC-1	pancreas:	n/a
45	chr1:169556022-169556072	ovcar-3	ovarian:	n/a
46	chr1:169556022-169556072	GM12892	blood:	n/a
47	chr1:169556022-169556072	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:169556022-169556072	MCF-7	breast:	n/a
49	chr1:169556022-169556072	AG09319	gingival:	n/a
50	chr1:169556022-169556072	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169555910..169558714-chr1:169805893..169807663,2	K562	blood:

No data

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

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10489184	0.96[AFR][1000 genomes]
rs1557573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2157583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3917832	1.00[EUR][1000 genomes]
rs3917835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3917844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3917855	1.00[EUR][1000 genomes]
rs57207056	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57637273	1.00[AMR][1000 genomes]
rs58131257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60345655	1.00[EUR][1000 genomes]
rs60781559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60864119	1.00[EUR][1000 genomes]
rs724510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73035543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73035547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73035573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73037438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73037444	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74124518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9287094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332479	1.00[EUR][1000 genomes]
rs9332480	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332482	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332485	1.00[EUR][1000 genomes]
rs9332486	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332489	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332491	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332492	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332494	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332496	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332499	1.00[EUR][1000 genomes]
rs9332501	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332506	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332508	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332530	1.00[EUR][1000 genomes]
rs9332532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332569	0.85[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	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169554800-169556200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:169554800-169556200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:169554800-169556400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr1:169555000-169556200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr1:169555200-169556200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr1:169555200-169556200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr1:169555400-169556200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:169555400-169556200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:169555400-169556200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:169555400-169556200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:169555400-169556200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:169555400-169556200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:169555400-169556200	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr1:169555400-169556200	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr1:169555400-169556200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr1:169555400-169556200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr1:169555400-169556200	Enhancers	Lung	lung
18	chr1:169555400-169556200	Enhancers	Pancreas	Pancrea
19	chr1:169555400-169556200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:169555400-169556200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr1:169555400-169556200	Flanking Active TSS	Dnd41	blood
22	chr1:169555400-169556400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:169555400-169556400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:169555400-169556400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:169555600-169556200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr1:169555600-169556200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:169555600-169556200	Enhancers	Colon Smooth Muscle	Colon
28	chr1:169555600-169556200	Enhancers	Fetal Thymus	thymus
29	chr1:169555600-169556200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:169555600-169556400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:169555600-169556400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:169555800-169556200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:169555800-169556200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:169555800-169556200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:169555800-169556200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:169555800-169556200	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:169555800-169556200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:169555800-169556200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr1:169555800-169556200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
40	chr1:169555800-169556200	Enhancers	Esophagus	oesophagus
41	chr1:169555800-169556200	Flanking Active TSS	Fetal Heart	heart
42	chr1:169555800-169556200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr1:169555800-169556200	Active TSS	Right Ventricle	heart
44	chr1:169555800-169556200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr1:169555800-169556200	Enhancers	HUVEC	blood vessel
46	chr1:169555800-169556400	Bivalent Enhancer	Primary B cells from cord blood	blood
47	chr1:169555800-169556400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:169555800-169556400	Flanking Active TSS	Liver	Liver
49	chr1:169555800-169556400	Flanking Active TSS	Stomach Mucosa	stomach
50	chr1:169555800-169556400	Flanking Active TSS	GM12878-XiMat	blood

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