Variant report

Variant	rs4573528
Chromosome Location	chr1:222628523-222628524
allele	G/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	CHD2	chr1:222628495-222628826	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:222628339-222629281	IMR90	lung:	n/a	chr1:222628638-222628659 chr1:222628945-222628954 chr1:222628643-222628661 chr1:222628644-222628660
3	MYC	chr1:222628517-222629059	H1-hESC	embryonic stem cell:	n/a	chr1:222628935-222628944 chr1:222628996-222629005
4	RAD21	chr1:222628098-222629076	SK-N-SH_RA	brain:	n/a	chr1:222628641-222628660
5	CEBPB	chr1:222628523-222629133	H1-hESC	embryonic stem cell:	n/a	chr1:222628996-222629007
6	MXI1	chr1:222628519-222628773	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr1:222628504-222628813	GM12891	blood:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
8	CTCF	chr1:222628512-222628803	LNCaP	prostate:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
9	CTCF	chr1:222628431-222628770	K562	blood:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
10	CTCF	chr1:222628472-222628770	HepG2	liver:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
11	CTCF	chr1:222628512-222628756	SK-N-SH_RA	brain:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
12	CTCF	chr1:222628502-222628813	NHEK	skin:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
13	CBX3	chr1:222628458-222629273	K562	blood:	n/a	n/a
14	RAD21	chr1:222628390-222628820	GM12878	blood:	n/a	chr1:222628641-222628660
15	CTCF	chr1:222628520-222628670	RPTEC	kidney:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
16	CTCF	chr1:222628503-222628803	LNCaP	prostate:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
17	CEBPB	chr1:222628448-222629296	K562	blood:	n/a	chr1:222628996-222629007
18	JUN	chr1:222627968-222629964	K562	blood:	n/a	chr1:222628911-222628924 chr1:222628932-222628945
19	RAD21	chr1:222628386-222628907	ECC-1	luminal epithelium:	n/a	chr1:222628641-222628660
20	RAD21	chr1:222628411-222628839	HepG2	liver:	n/a	chr1:222628641-222628660
21	BRCA1	chr1:222628499-222629155	Hela-S3	cervix:	n/a	n/a
22	JUND	chr1:222628521-222629115	HepG2	liver:	n/a	n/a
23	CTCF	chr1:222628347-222628954	K562	blood:	n/a	chr1:222628638-222628659 chr1:222628945-222628954 chr1:222628643-222628661 chr1:222628644-222628660
24	EP300	chr1:222628469-222629259	K562	blood:	n/a	chr1:222628993-222629007 chr1:222628932-222628946
25	CTCF	chr1:222628500-222628811	A549	lung:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
26	CTCF	chr1:222628498-222628819	K562	blood:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
27	MAFK	chr1:222628500-222628891	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZNF143	chr1:222628505-222628965	H1-hESC	embryonic stem cell:	n/a	n/a
29	SMC3	chr1:222628302-222629181	Hela-S3	cervix:	n/a	chr1:222628645-222628659
30	SMC3	chr1:222628472-222629055	HepG2	liver:	n/a	chr1:222628645-222628659
31	CTCF	chr1:222628506-222628811	GM19239	blood:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
32	CTCF	chr1:222628387-222628844	T-47D	breast:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
33	CTCF	chr1:222628406-222628850	K562	blood:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
34	E2F4	chr1:222628443-222629076	MCF10A-Er-Src	breast:	n/a	chr1:222628891-222628898
35	ATF1	chr1:222628502-222629139	K562	blood:	n/a	n/a
36	WRNIP1	chr1:222628483-222628973	GM12878	blood:	n/a	n/a
37	CTCF	chr1:222628520-222628670	AG04450	lung:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
38	CTCF	chr1:222628474-222628819	Spleen_OC	spleen:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
39	CTCF	chr1:222628463-222628935	MCF-7	breast:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
40	MYC	chr1:222628506-222629123	MCF10A-Er-Src	breast:	n/a	chr1:222628935-222628944 chr1:222628996-222629005
41	RAD21	chr1:222627515-222629188	IMR90	lung:	n/a	chr1:222628641-222628660
42	UBTF	chr1:222628507-222628790	K562	blood:	n/a	n/a
43	EP300	chr1:222628158-222628722	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr1:222627705-222629409	SK-N-SH	brain:	n/a	chr1:222628638-222628659 chr1:222628945-222628954 chr1:222628643-222628661 chr1:222628644-222628660
45	CTCF	chr1:222628491-222628809	GM10266	blood:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
46	CBX3	chr1:222628423-222628951	K562	blood:	n/a	n/a
47	BACH1	chr1:222628496-222628784	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr1:222628483-222629224	NB4	blood:	n/a	chr1:222628935-222628944 chr1:222628996-222629005
49	CTCF	chr1:222628336-222628850	A549	lung:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660
50	CTCF	chr1:222628517-222628845	ECC-1	luminal epithelium:	n/a	chr1:222628638-222628659 chr1:222628643-222628661 chr1:222628644-222628660

No.	Distal block	Cell Line	Cell type
1	chr1:222297313..222298602-chr1:222628186..222629290,6	MCF-7	breast:
2	chr1:221651337..221652127-chr1:222628247..222629064,2	MCF-7	breast:
3	chr1:222297861..222298606-chr1:222628253..222629047,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226643	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11589561	0.83[ASN][1000 genomes]
rs11591051	0.83[ASN][1000 genomes]
rs1386580	0.83[ASN][1000 genomes]
rs17461834	0.83[ASN][1000 genomes]
rs17462264	0.83[ASN][1000 genomes]
rs1906271	0.83[ASN][1000 genomes]
rs1906273	0.83[ASN][1000 genomes]
rs35052617	0.83[ASN][1000 genomes]
rs35061493	0.83[ASN][1000 genomes]
rs35077442	0.83[ASN][1000 genomes]
rs35784999	0.83[ASN][1000 genomes]
rs35844598	0.83[ASN][1000 genomes]
rs4468169	0.82[AFR][1000 genomes]
rs67867153	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734175	0.83[ASN][1000 genomes]
rs72734194	0.83[ASN][1000 genomes]
rs72734197	0.83[ASN][1000 genomes]
rs72734202	0.83[ASN][1000 genomes]
rs765233	0.83[ASN][1000 genomes]
rs765308	0.83[ASN][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	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222626800-222629000	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr1:222627200-222628600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:222627400-222628600	Enhancers	NHLF	lung
4	chr1:222627400-222629000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:222627600-222628600	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:222627600-222629000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:222627600-222629000	Enhancers	Fetal Lung	lung
8	chr1:222627600-222629000	Enhancers	Fetal Stomach	stomach
9	chr1:222627600-222629400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:222627600-222629600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:222627800-222628600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:222627800-222628600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:222627800-222628600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:222627800-222628800	Enhancers	Primary T cells from cord blood	blood
15	chr1:222627800-222629000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:222628000-222628600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:222628000-222628600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:222628000-222628600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:222628000-222628600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:222628000-222628600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:222628000-222628600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:222628000-222628600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:222628000-222628600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:222628000-222628600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:222628000-222628600	Enhancers	Aorta	Aorta
26	chr1:222628000-222628600	Enhancers	Brain Angular Gyrus	brain
27	chr1:222628000-222628600	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr1:222628000-222628600	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:222628000-222628600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr1:222628000-222628600	Enhancers	HSMM	muscle
31	chr1:222628000-222628800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:222628000-222628800	Enhancers	Pancreas	Pancrea
33	chr1:222628000-222629000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:222628000-222629000	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:222628000-222629000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:222628000-222629000	Enhancers	Colon Smooth Muscle	Colon
37	chr1:222628000-222629000	Enhancers	Fetal Heart	heart
38	chr1:222628000-222629000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:222628000-222629000	Flanking Active TSS	HMEC	breast
40	chr1:222628000-222629200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:222628000-222629200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:222628200-222628600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:222628200-222628600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr1:222628200-222628600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr1:222628200-222628600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:222628200-222628600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:222628200-222628600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:222628200-222628600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:222628200-222628600	Enhancers	Liver	Liver
50	chr1:222628200-222628600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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