Variant report

Variant	rs190930105
Chromosome Location	chr1:166945106-166945107
allele	C/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	POLR2A	chr1:166944478-166945195	GM12878	blood:	n/a	n/a
2	MAX	chr1:166944862-166945164	HepG2	liver:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
3	MAX	chr1:166944579-166945193	HepG2	liver:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
4	E2F6	chr1:166944619-166945199	K562	blood:	n/a	n/a
5	UBTF	chr1:166944416-166945303	K562	blood:	n/a	n/a
6	MAX	chr1:166944849-166945190	GM12878	blood:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
7	HMGN3	chr1:166944640-166945200	K562	blood:	n/a	n/a
8	MAX	chr1:166944827-166945284	A549	lung:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
9	UBTF	chr1:166944604-166945218	K562	blood:	n/a	n/a
10	RAD21	chr1:166944566-166945326	H1-hESC	embryonic stem cell:	n/a	chr1:166944882-166944895
11	RUNX3	chr1:166945002-166945355	GM12878	blood:	n/a	n/a
12	ELF1	chr1:166944411-166945376	GM12878	blood:	n/a	chr1:166944695-166944704 chr1:166944677-166944686 chr1:166944704-166944717
13	POLR2A	chr1:166944118-166945370	Raji	blood:	n/a	n/a
14	EGR1	chr1:166944701-166945136	K562	blood:	n/a	n/a
15	USF1	chr1:166944696-166945133	HCT-116	colon:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
16	E2F6	chr1:166944694-166945289	A549	lung:	n/a	n/a
17	TBP	chr1:166944982-166945182	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr1:166944572-166945122	MCF-7	breast:	n/a	chr1:166944874-166944885 chr1:166944875-166944884
19	PAX5	chr1:166944618-166945171	GM12892	blood:	n/a	chr1:166944688-166944697
20	ZBTB7A	chr1:166944824-166945193	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr1:166944026-166945444	GM18505	blood:	n/a	n/a
22	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
23	POLR2A	chr1:166944424-166945352	GM18951	blood:	n/a	n/a
24	TCF3	chr1:166944636-166945108	GM12878	blood:	n/a	n/a
25	BACH1	chr1:166944785-166945212	H1-hESC	embryonic stem cell:	n/a	n/a
26	USF1	chr1:166944659-166945154	ECC-1	luminal epithelium:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
27	MYC	chr1:166944700-166945262	NB4	blood:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
28	BHLHE40	chr1:166944685-166945110	GM12878	blood:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944874-166944883
29	GTF2F1	chr1:166945101-166945151	H1-hESC	embryonic stem cell:	n/a	n/a
30	RUNX3	chr1:166944895-166945420	GM12878	blood:	n/a	n/a
31	MTA3	chr1:166944766-166945437	GM12878	blood:	n/a	n/a
32	ZNF143	chr1:166944882-166945191	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:166944717-166945121	IMR90	lung:	n/a	chr1:166944883-166944896
34	JUND	chr1:166944948-166945419	H1-hESC	embryonic stem cell:	n/a	n/a
35	E2F6	chr1:166944622-166945135	K562	blood:	n/a	n/a
36	CTCF	chr1:166944960-166945110	HepG2	liver:	n/a	n/a
37	MAX	chr1:166944737-166945121	K562	blood:	n/a	chr1:166944874-166944885 chr1:166944875-166944884
38	CTCF	chr1:166944478-166945328	SK-N-SH	brain:	n/a	chr1:166944883-166944896
39	SUZ12	chr1:166943442-166945496	NT2-D1	testis:	n/a	n/a
40	ZNF143	chr1:166944896-166945113	K562	blood:	n/a	n/a
41	USF1	chr1:166944673-166945197	ECC-1	luminal epithelium:	n/a	chr1:166944875-166944884 chr1:166944875-166944884 chr1:166944873-166944886 chr1:166944873-166944884 chr1:166944874-166944883
42	E2F6	chr1:166944678-166945306	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr1:166944741-166945111	HepG2	liver:	n/a	n/a
44	E2F4	chr1:166944996-166945501	MCF10A-Er-Src	breast:	n/a	n/a
45	MXI1	chr1:166944804-166945344	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAZ	chr1:166944465-166945362	GM12878	blood:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
47	MAX	chr1:166944566-166945248	K562	blood:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
48	YY1	chr1:166944876-166945157	K562	blood:	n/a	n/a
49	MAX	chr1:166944643-166945312	A549	lung:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884
50	MAZ	chr1:166944729-166945281	K562	blood:	n/a	chr1:166945142-166945152 chr1:166944874-166944885 chr1:166944875-166944884

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	chr1:166944000-166945200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:166944000-166945200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:166944000-166945200	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr1:166944000-166945400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:166944000-166945400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:166944000-166945400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:166944000-166945400	Active TSS	Aorta	Aorta
19	chr1:166944000-166945400	Active TSS	Brain Substantia Nigra	brain
20	chr1:166944000-166945400	Active TSS	Rectal Smooth Muscle	rectum
21	chr1:166944000-166945600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:166944000-166945600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr1:166944000-166945600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:166944000-166945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:166944000-166945600	Active TSS	Brain Cingulate Gyrus	brain
26	chr1:166944000-166945800	Active TSS	Left Ventricle	heart
27	chr1:166944000-166945800	Active TSS	Right Atrium	heart
28	chr1:166944200-166945200	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:166944200-166945200	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:166944200-166945200	Active TSS	Brain Germinal Matrix	brain
31	chr1:166944200-166945400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:166944200-166945400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr1:166944200-166945400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:166944200-166945400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:166944200-166945400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr1:166944200-166945400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:166944200-166945400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:166944200-166945400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:166944200-166945400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr1:166944200-166945400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:166944200-166945400	Active TSS	Brain Anterior Caudate	brain
42	chr1:166944200-166945400	Active TSS	Colonic Mucosa	Colon
43	chr1:166944200-166945400	Active TSS	Fetal Heart	heart
44	chr1:166944200-166945400	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:166944200-166945400	Active TSS	Thymus	Thymus
46	chr1:166944200-166945400	Active TSS	HSMMtube	muscle
47	chr1:166944200-166945400	Bivalent/Poised TSS	NHEK	skin
48	chr1:166944200-166945600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:166944200-166945600	Active TSS	Primary T cells from cord blood	blood
50	chr1:166944200-166945600	Active TSS	Brain Angular Gyrus	brain

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