Variant report

Variant	rs372324663
Chromosome Location	chr1:166944952-166944953
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	MAZ	chr1:166944868-166944992	HepG2	liver:	n/a	chr1:166944874-166944885 chr1:166944875-166944884
2	USF2	chr1:166944858-166945013	GM12878	blood:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944874-166944883
3	POLR2A	chr1:166944478-166945195	GM12878	blood:	n/a	n/a
4	E2F6	chr1:166944607-166944975	K562	blood:	n/a	n/a
5	MAX	chr1:166944862-166945164	HepG2	liver:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
6	USF2	chr1:166944771-166945062	H1-hESC	embryonic stem cell:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944874-166944883
7	MAX	chr1:166944579-166945193	HepG2	liver:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
8	E2F6	chr1:166944619-166945199	K562	blood:	n/a	n/a
9	UBTF	chr1:166944416-166945303	K562	blood:	n/a	n/a
10	USF1	chr1:166944751-166945001	SK-N-SH_RA	brain:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
11	MAX	chr1:166944849-166945190	GM12878	blood:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
12	HMGN3	chr1:166944640-166945200	K562	blood:	n/a	n/a
13	ELF1	chr1:166944494-166944955	K562	blood:	n/a	chr1:166944695-166944704 chr1:166944677-166944686 chr1:166944704-166944717
14	USF1	chr1:166944746-166945053	A549	lung:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
15	CTCF	chr1:166944661-166944953	GM12878	blood:	n/a	chr1:166944883-166944896
16	MAX	chr1:166944827-166945284	A549	lung:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
17	USF2	chr1:166944827-166945000	HepG2	liver:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944874-166944883
18	UBTF	chr1:166944604-166945218	K562	blood:	n/a	n/a
19	RAD21	chr1:166944566-166945326	H1-hESC	embryonic stem cell:	n/a	chr1:166944882-166944895
20	RCOR1	chr1:166944852-166945034	GM12878	blood:	n/a	n/a
21	MYC	chr1:166944722-166944955	MCF10A-Er-Src	breast:	n/a	chr1:166944874-166944885 chr1:166944875-166944884
22	ELF1	chr1:166944411-166945376	GM12878	blood:	n/a	chr1:166944695-166944704 chr1:166944677-166944686 chr1:166944704-166944717
23	POLR2A	chr1:166944118-166945370	Raji	blood:	n/a	n/a
24	BHLHE40	chr1:166944724-166945072	HepG2	liver:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944874-166944883
25	EGR1	chr1:166944701-166945136	K562	blood:	n/a	n/a
26	USF1	chr1:166944696-166945133	HCT-116	colon:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
27	USF1	chr1:166944672-166945064	A549	lung:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
28	YY1	chr1:166944436-166944979	GM12878	blood:	n/a	n/a
29	USF1	chr1:166944703-166945102	K562	blood:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
30	CTCF	chr1:166944613-166944976	K562	blood:	n/a	chr1:166944883-166944896
31	MYC	chr1:166944736-166944975	MCF-7	breast:	n/a	chr1:166944874-166944885 chr1:166944875-166944884
32	SMC3	chr1:166944776-166944996	K562	blood:	n/a	n/a
33	USF1	chr1:166944735-166945008	HepG2	liver:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
34	MYC	chr1:166944733-166945067	K562	blood:	n/a	chr1:166944874-166944885 chr1:166944875-166944884
35	E2F6	chr1:166944694-166945289	A549	lung:	n/a	n/a
36	CTCF	chr1:166944820-166944970	K562	blood:	n/a	chr1:166944883-166944896
37	USF1	chr1:166944712-166945017	GM12878	blood:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
38	MAX	chr1:166944572-166945122	MCF-7	breast:	n/a	chr1:166944874-166944885 chr1:166944875-166944884
39	USF1	chr1:166944808-166945001	A549	lung:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
40	PAX5	chr1:166944618-166945171	GM12892	blood:	n/a	chr1:166944688-166944697
41	E2F6	chr1:166944644-166945038	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZBTB7A	chr1:166944824-166945193	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr1:166944026-166945444	GM18505	blood:	n/a	n/a
44	USF1	chr1:166944670-166945118	H1-hESC	embryonic stem cell:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
45	USF1	chr1:166944792-166945031	SK-N-SH	brain:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
46	USF1	chr1:166944796-166945035	SK-N-SH_RA	brain:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
47	CTCF	chr1:166944840-166944990	GM12873	blood:	n/a	chr1:166944883-166944896
48	RAD21	chr1:166944664-166944962	K562	blood:	n/a	chr1:166944882-166944895
49	POLR2A	chr1:166944424-166945352	GM18951	blood:	n/a	n/a
50	TCF3	chr1:166944636-166945108	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ILDR2	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3345801	chr1:166943803-166945951	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166941800-166945400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:166942200-166945800	Active TSS	Fetal Brain Female	brain
3	chr1:166943200-166945400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:166943200-166945400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:166943200-166945600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:166943400-166946000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:166943600-166945800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:166943800-166945400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:166943800-166945400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:166943800-166945400	Active TSS	Brain Hippocampus Middle	brain
11	chr1:166943800-166945600	Active TSS	Right Ventricle	heart
12	chr1:166944000-166945000	Active TSS	Fetal Muscle Trunk	muscle
13	chr1:166944000-166945200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:166944000-166945200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:166944000-166945200	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr1:166944000-166945400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:166944000-166945400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:166944000-166945400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:166944000-166945400	Active TSS	Aorta	Aorta
20	chr1:166944000-166945400	Active TSS	Brain Substantia Nigra	brain
21	chr1:166944000-166945400	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:166944000-166945600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:166944000-166945600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr1:166944000-166945600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:166944000-166945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:166944000-166945600	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:166944000-166945800	Active TSS	Left Ventricle	heart
28	chr1:166944000-166945800	Active TSS	Right Atrium	heart
29	chr1:166944200-166945000	Active TSS	Primary hematopoietic stem cells	blood
30	chr1:166944200-166945200	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr1:166944200-166945200	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr1:166944200-166945200	Active TSS	Brain Germinal Matrix	brain
33	chr1:166944200-166945400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:166944200-166945400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr1:166944200-166945400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:166944200-166945400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:166944200-166945400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:166944200-166945400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:166944200-166945400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:166944200-166945400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:166944200-166945400	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr1:166944200-166945400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:166944200-166945400	Active TSS	Brain Anterior Caudate	brain
44	chr1:166944200-166945400	Active TSS	Colonic Mucosa	Colon
45	chr1:166944200-166945400	Active TSS	Fetal Heart	heart
46	chr1:166944200-166945400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr1:166944200-166945400	Active TSS	Thymus	Thymus
48	chr1:166944200-166945400	Active TSS	HSMMtube	muscle
49	chr1:166944200-166945400	Bivalent/Poised TSS	NHEK	skin
50	chr1:166944200-166945600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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