Variant report

Variant	rs1308154
Chromosome Location	chr1:151688828-151688829
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	FOXA1	chr1:151688589-151688860	HepG2	liver:	n/a	n/a
2	MXI1	chr1:151687714-151691021	SK-N-SH	brain:	n/a	n/a
3	SMC3	chr1:151688667-151688878	HepG2	liver:	n/a	chr1:151688718-151688725 chr1:151688718-151688732
4	RAD21	chr1:151688524-151688859	HepG2	liver:	n/a	chr1:151688717-151688736
5	YY1	chr1:151688596-151688881	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr1:151688465-151688955	HepG2	liver:	n/a	chr1:151688717-151688736
7	RAD21	chr1:151688577-151688905	H1-hESC	embryonic stem cell:	n/a	chr1:151688717-151688736
8	CTCF	chr1:151688720-151688870	HRPEpiC	eye:	n/a	chr1:151688721-151688731
9	SMC3	chr1:151688258-151689096	SK-N-SH	brain:	n/a	chr1:151688718-151688725 chr1:151688718-151688732
10	CTCF	chr1:151688700-151688850	SAEC	small airway:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
11	CTCF	chr1:151688680-151688830	HCPEpiC	choroid plexus:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
12	CTCF	chr1:151688605-151688837	H1-hESC	embryonic stem cell:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
13	REST	chr1:151688655-151689030	PFSK-1	brain:	n/a	chr1:151688707-151688714
14	CTCF	chr1:151688680-151688830	GM12869	blood:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
15	RAD21	chr1:151688514-151688895	SK-N-SH_RA	brain:	n/a	chr1:151688717-151688736
16	CTCF	chr1:151688680-151688830	GM12864	blood:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
17	POLR2A	chr1:151688255-151690437	H1-neurons	neurons:	n/a	n/a
18	SIN3A	chr1:151688435-151688954	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr1:151688612-151688868	SK-N-SH_RA	brain:	n/a	chr1:151688717-151688736
20	TAF1	chr1:151688619-151689118	H1-neurons	neurons:	n/a	n/a
21	CTCF	chr1:151688680-151688830	GM06990	blood:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
22	CTCF	chr1:151688638-151688828	K562	blood:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
23	REST	chr1:151688587-151688886	H1-hESC	embryonic stem cell:	n/a	chr1:151688707-151688714
24	JUND	chr1:151688544-151688982	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr1:151688740-151688890	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr1:151688606-151688839	HepG2	liver:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
27	CTCF	chr1:151688700-151688850	HMF	breast:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
28	CTCF	chr1:151688680-151688830	HepG2	liver:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
29	POLR2A	chr1:151688289-151690441	H1-neurons	neurons:	n/a	n/a
30	CTCF	chr1:151688680-151688830	HMEC	breast:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
31	RAD21	chr1:151688395-151689000	H1-hESC	embryonic stem cell:	n/a	chr1:151688717-151688736
32	CTCF	chr1:151688529-151688843	HepG2	liver:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
33	RAD21	chr1:151688598-151688839	HepG2	liver:	n/a	chr1:151688717-151688736
34	REST	chr1:151688554-151690734	MCF-7	breast:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151688707-151688714 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151690304-151690313 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689576-151689589
35	CTCF	chr1:151688680-151688830	RPTEC	kidney:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
36	CTCF	chr1:151688364-151689143	SK-N-SH	brain:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
37	REST	chr1:151687817-151690681	H1-neurons	neurons:	n/a	chr1:151689576-151689596 chr1:151689582-151689596 chr1:151688707-151688714 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151689584-151689594 chr1:151689577-151689595 chr1:151689576-151689585 chr1:151690304-151690313 chr1:151689361-151689381 chr1:151689579-151689592 chr1:151689576-151689596 chr1:151687864-151687884 chr1:151688525-151688538 chr1:151689576-151689589 chr1:151687901-151687911
38	CTCF	chr1:151688680-151688830	AG04449	skin:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
39	CTCF	chr1:151688700-151688850	GM12871	blood:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
40	CTCF	chr1:151688557-151688919	H1-hESC	embryonic stem cell:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
41	RAD21	chr1:151688245-151689158	SK-N-SH	brain:	n/a	chr1:151688717-151688736
42	CTCF	chr1:151688510-151688921	H1-hESC	embryonic stem cell:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
43	CTCF	chr1:151688680-151688830	MCF-7	breast:	n/a	chr1:151688719-151688728 chr1:151688718-151688739 chr1:151688721-151688731 chr1:151688716-151688734 chr1:151688717-151688733
44	RAD21	chr1:151688535-151688928	H1-hESC	embryonic stem cell:	n/a	chr1:151688717-151688736
45	REST	chr1:151688599-151688920	H1-hESC	embryonic stem cell:	n/a	chr1:151688707-151688714

No.	Distal block	Cell Line	Cell type
1	chr1:151481002..151483252-chr1:151687957..151690791,2	MCF-7	breast:
2	chr1:151510509..151513919-chr1:151688057..151691918,3	MCF-7	breast:
3	chr1:151685651..151688876-chr1:151692359..151694505,3	MCF-7	breast:
4	chr1:151682885..151684895-chr1:151686526..151689556,3	K562	blood:
5	chr1:151688007..151690432-chr1:151699562..151701503,2	MCF-7	breast:

Variant related genes	Relation type
CELF3	TF binding region
ENSG00000143367	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000240510	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000178796	Chromatin interaction

rs_ID	r²[population]
rs1196470	0.80[ASN][1000 genomes]
rs1781409	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151670000-151689800	Weak transcription	Pancreas	Pancrea
2	chr1:151684400-151689600	Active TSS	Brain Anterior Caudate	brain
3	chr1:151685400-151689800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:151685400-151690000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:151685600-151690400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:151685800-151689400	Weak transcription	A549	lung
7	chr1:151686400-151689400	Active TSS	Brain Hippocampus Middle	brain
8	chr1:151686400-151690000	Active TSS	Brain Cingulate Gyrus	brain
9	chr1:151686800-151690000	Active TSS	Brain Angular Gyrus	brain
10	chr1:151687400-151689000	Enhancers	K562	blood
11	chr1:151687400-151689200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:151687600-151689400	Active TSS	Fetal Intestine Large	intestine
13	chr1:151687800-151689000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:151688000-151689000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:151688000-151689800	Active TSS	Fetal Brain Female	brain
16	chr1:151688200-151689000	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr1:151688200-151689400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr1:151688400-151689000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:151688400-151689000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:151688400-151689000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr1:151688400-151689000	Bivalent Enhancer	Spleen	Spleen
22	chr1:151688400-151689000	Flanking Active TSS	HepG2	liver
23	chr1:151688400-151689200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:151688400-151689200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr1:151688400-151689600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:151688400-151689800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:151688600-151689000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr1:151688600-151689000	Bivalent Enhancer	Fetal Lung	lung
29	chr1:151688600-151689000	Flanking Bivalent TSS/Enh	Placenta	Placenta
30	chr1:151688600-151689200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr1:151688600-151689400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:151688600-151689600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:151688600-151689600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:151688600-151689800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:151688600-151689800	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:151688600-151689800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr1:151688600-151689800	Active TSS	Brain Substantia Nigra	brain
38	chr1:151688600-151690000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr1:151688600-151690200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr1:151688600-151690200	Bivalent Enhancer	Fetal Thymus	thymus
41	chr1:151688800-151689000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:151688800-151689000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:151688800-151689000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:151688800-151689000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:151688800-151689000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr1:151688800-151689400	Active TSS	Fetal Brain Male	brain
47	chr1:151688800-151689600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:151688800-151689800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:151688800-151689800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:151688800-151690000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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