Variant report

Variant	rs552600359
Chromosome Location	chr1:226411602-226411603
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	CTCF	chr1:226411475-226411694	K562	blood:	n/a	n/a
2	CTCF	chr1:226411494-226411777	GM19240	blood:	n/a	n/a
3	CTCF	chr1:226411540-226411690	GM06990	blood:	n/a	n/a
4	CTCF	chr1:226411541-226411731	GM10266	blood:	n/a	n/a
5	CTCF	chr1:226411582-226411706	GM20000	blood:	n/a	n/a
6	CTCF	chr1:226411540-226411690	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr1:226411560-226411710	GM12865	blood:	n/a	n/a
8	YY1	chr1:226411505-226411795	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:226411597-226411731	IMR90	lung:	n/a	n/a
10	CTCF	chr1:226411560-226411710	GM12878	blood:	n/a	n/a
11	CTCF	chr1:226411540-226411690	GM12870	blood:	n/a	n/a
12	POLR2A	chr1:226411577-226411626	HUVEC	blood vessel:	n/a	n/a
13	BHLHE40	chr1:226410854-226411899	HepG2	liver:	n/a	chr1:226411233-226411249
14	TCF12	chr1:226411552-226411740	GM12878	blood:	n/a	n/a
15	SIN3A	chr1:226411342-226411866	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr1:226411582-226411883	GM12878	blood:	n/a	n/a
17	CTCF	chr1:226411560-226411710	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr1:226411540-226411690	GM12874	blood:	n/a	n/a
19	POLR2A	chr1:226411591-226411999	HepG2	liver:	n/a	n/a
20	MAX	chr1:226411426-226411897	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZBTB7A	chr1:226411459-226411681	HepG2	liver:	n/a	n/a
22	HNF4G	chr1:226410762-226411678	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
23	POLR2A	chr1:226411145-226411969	GM19099	blood:	n/a	n/a
24	CTCF	chr1:226411600-226411750	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr1:226411560-226411710	GM12873	blood:	n/a	n/a
26	CTCF	chr1:226411546-226411715	SK-N-SH_RA	brain:	n/a	n/a
27	ZBTB7A	chr1:226411189-226411686	K562	blood:	n/a	n/a
28	TCF3	chr1:226411533-226411935	GM12878	blood:	n/a	n/a
29	CTCF	chr1:226411560-226411710	GM12872	blood:	n/a	n/a
30	CTCF	chr1:226411581-226411706	GM10248	blood:	n/a	n/a
31	RAD21	chr1:226411518-226411730	HepG2	liver:	n/a	n/a
32	CTCF	chr1:226411384-226411928	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:226411546-226411742	A549	lung:	n/a	n/a
34	CTCF	chr1:226411600-226411750	GM12873	blood:	n/a	n/a
35	CTCF	chr1:226411580-226411730	GM12865	blood:	n/a	n/a
36	CTCF	chr1:226411540-226411690	AG09319	gingival:	n/a	n/a
37	CTCF	chr1:226411580-226411730	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr1:226411570-226411693	K562	blood:	n/a	n/a
39	CTCF	chr1:226411546-226411742	SK-N-SH_RA	brain:	n/a	n/a
40	HNF4A	chr1:226410720-226411809	HepG2	liver:	n/a	chr1:226410954-226410966 chr1:226410951-226410969 chr1:226410954-226410966
41	TBP	chr1:226411558-226411855	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZBTB7A	chr1:226411457-226411660	HepG2	liver:	n/a	n/a
43	CTCF	chr1:226411600-226411750	GM12875	blood:	n/a	n/a
44	CTCF	chr1:226411540-226411690	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr1:226411580-226411730	GM12873	blood:	n/a	n/a
46	POLR2A	chr1:226411541-226411927	GM12878	blood:	n/a	n/a
47	TAF1	chr1:226411544-226411934	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:226411560-226411710	HEK293	kidney:	n/a	n/a
49	CREB1	chr1:226411472-226412042	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZBTB7A	chr1:226411177-226411863	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
MIXL1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv3425958	chr1:226410154-226412702	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226410600-226412200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:226410600-226412400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:226410600-226412800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:226410800-226411800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:226410800-226411800	Enhancers	Fetal Heart	heart
6	chr1:226410800-226412000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:226410800-226412000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:226410800-226412000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:226410800-226412200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:226410800-226412200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:226410800-226412400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:226410800-226412400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:226410800-226412400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:226410800-226412400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
15	chr1:226410800-226412800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:226411000-226411800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:226411000-226411800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:226411000-226411800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:226411000-226411800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:226411000-226411800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
21	chr1:226411000-226411800	Active TSS	Duodenum Mucosa	Duodenum
22	chr1:226411000-226411800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr1:226411000-226411800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
24	chr1:226411000-226411800	Bivalent/Poised TSS	Fetal Stomach	stomach
25	chr1:226411000-226411800	Active TSS	Ovary	ovary
26	chr1:226411000-226411800	Bivalent/Poised TSS	NHLF	lung
27	chr1:226411000-226412000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr1:226411000-226412000	Active TSS	Aorta	Aorta
29	chr1:226411000-226412000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:226411000-226412000	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:226411000-226412200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr1:226411000-226412200	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:226411000-226412200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:226411000-226412200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:226411000-226412200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:226411000-226412800	Active TSS	HepG2	liver
37	chr1:226411200-226411800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:226411200-226411800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:226411200-226411800	Active TSS	Primary B cells from cord blood	blood
40	chr1:226411200-226411800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr1:226411200-226411800	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:226411200-226411800	Active TSS	Brain Angular Gyrus	brain
43	chr1:226411200-226411800	Active TSS	Brain Anterior Caudate	brain
44	chr1:226411200-226411800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
45	chr1:226411200-226411800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:226411200-226411800	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr1:226411200-226411800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr1:226411200-226411800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
49	chr1:226411200-226411800	Active TSS	GM12878-XiMat	blood
50	chr1:226411200-226411800	Active TSS	NH-A	brain

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