Variant report

Variant	rs577483739
Chromosome Location	chr1:166136410-166136411
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	TBL1XR1	chr1:166135886-166136696	GM12878	blood:	n/a	n/a
2	REST	chr1:166136351-166136667	H1-hESC	embryonic stem cell:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
3	MAX	chr1:166135835-166136581	HepG2	liver:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
4	MAZ	chr1:166136121-166136774	HepG2	liver:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
5	CTCF	chr1:166136374-166136543	GM19238	blood:	n/a	chr1:166136412-166136425
6	CTCF	chr1:166136340-166136490	HepG2	liver:	n/a	chr1:166136412-166136425
7	ETS1	chr1:166136172-166136457	K562	blood:	n/a	chr1:166136269-166136280
8	CTCF	chr1:166136360-166136510	GM12866	blood:	n/a	chr1:166136412-166136425
9	EBF1	chr1:166136245-166136552	GM12878	blood:	n/a	n/a
10	REST	chr1:166136219-166136784	ECC-1	luminal epithelium:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
11	CTCF	chr1:166136360-166136510	HRPEpiC	eye:	n/a	chr1:166136412-166136425
12	CTCF	chr1:166136380-166136530	HMEC	breast:	n/a	chr1:166136412-166136425
13	CHD2	chr1:166136125-166136616	GM12878	blood:	n/a	n/a
14	ZNF143	chr1:166136118-166136480	H1-hESC	embryonic stem cell:	n/a	chr1:166136260-166136278 chr1:166136119-166136137
15	MAX	chr1:166136404-166136813	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr1:166135665-166136629	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166135699-166135709 chr1:166136269-166136279 chr1:166135744-166135754 chr1:166135691-166135700
17	POLR2A	chr1:166135446-166136699	GM18951	blood:	n/a	n/a
18	POLR2A	chr1:166136054-166136705	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr1:166136380-166136530	WERI-Rb-1	eye:	n/a	chr1:166136412-166136425
20	REST	chr1:166136365-166136539	SK-N-SH	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
21	ELF1	chr1:166135882-166136670	GM12878	blood:	n/a	chr1:166136084-166136096 chr1:166136344-166136356
22	MAX	chr1:166136103-166136574	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
23	POLR2A	chr1:166136102-166136607	HCT-116	colon:	n/a	n/a
24	REST	chr1:166136278-166136524	U87	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
25	REST	chr1:166135989-166136788	HL-60	blood:	n/a	chr1:166136445-166136465 chr1:166136004-166136017 chr1:166136445-166136454
26	E2F6	chr1:166135566-166136593	K562	blood:	n/a	chr1:166136086-166136096 chr1:166135698-166135707 chr1:166136147-166136157
27	MAX	chr1:166135925-166136628	HCT-116	colon:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
28	MYC	chr1:166135980-166136418	MCF-7	breast:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
29	REST	chr1:166136219-166136691	PANC-1	pancreas:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
30	YY1	chr1:166135891-166136467	HepG2	liver:	n/a	chr1:166136083-166136097 chr1:166135986-166135997 chr1:166136083-166136094 chr1:166136016-166136027
31	USF1	chr1:166136129-166136542	ECC-1	luminal epithelium:	n/a	n/a
32	MYC	chr1:166135927-166136511	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
33	REST	chr1:166136283-166136638	SK-N-SH	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
34	POLR2A	chr1:166136381-166136722	MCF10A-Er-Src	breast:	n/a	n/a
35	CTCF	chr1:166136360-166136510	AG04449	skin:	n/a	chr1:166136412-166136425
36	CTCF	chr1:166135907-166136654	K562	blood:	n/a	chr1:166136150-166136163 chr1:166136412-166136425
37	HNF4A	chr1:166136332-166136531	HepG2	liver:	n/a	chr1:166136448-166136463
38	MYC	chr1:166136275-166136456	HepG2	liver:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345
39	CTCF	chr1:166136345-166136624	K562	blood:	n/a	chr1:166136412-166136425
40	MXI1	chr1:166136165-166136559	K562	blood:	n/a	n/a
41	REST	chr1:166136260-166136631	U87	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
42	TCF7L2	chr1:166136048-166136497	HCT-116	colon:	n/a	n/a
43	MYC	chr1:166136047-166136507	MCF10A-Er-Src	breast:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
44	RCOR1	chr1:166136329-166136609	GM12878	blood:	n/a	n/a
45	REST	chr1:166136294-166136520	GM12878	blood:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
46	CTCF	chr1:166136383-166136533	GM12892	blood:	n/a	chr1:166136412-166136425
47	EGR1	chr1:166135847-166136454	K562	blood:	n/a	chr1:166136269-166136279 chr1:166136268-166136278 chr1:166136380-166136393 chr1:166136291-166136305 chr1:166135949-166135963
48	REST	chr1:166136294-166136524	U87	brain:	n/a	chr1:166136445-166136465 chr1:166136445-166136454
49	MAX	chr1:166135854-166136587	H1-hESC	embryonic stem cell:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
50	REST	chr1:166136293-166136779	PANC-1	pancreas:	n/a	chr1:166136445-166136465 chr1:166136445-166136454

Variant related genes	Relation type
FAM78B	TF binding region
ENSG00000230898	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	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	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv3356306	chr1:166134753-166137301	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3380611	chr1:166135003-166137251	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3328889	chr1:166135153-166137701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 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	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:166134000-166136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr1:166134000-166136600	Active TSS	Brain Angular Gyrus	brain
6	chr1:166134000-166136600	Active TSS	Brain Anterior Caudate	brain
7	chr1:166134000-166136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
9	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:166134400-166136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:166134400-166136800	Active TSS	Aorta	Aorta
12	chr1:166134400-166136800	Active TSS	Colon Smooth Muscle	Colon
13	chr1:166134400-166137000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:166134400-166137000	Active TSS	Left Ventricle	heart
15	chr1:166135000-166136800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:166135200-166136600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr1:166135200-166136600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:166135200-166136600	Bivalent/Poised TSS	HepG2	liver
19	chr1:166135200-166136600	Bivalent/Poised TSS	NHLF	lung
20	chr1:166135200-166136800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:166135200-166136800	Bivalent/Poised TSS	Thymus	Thymus
22	chr1:166135400-166136600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr1:166135400-166136600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:166135400-166136600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:166135400-166136600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:166135400-166136600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr1:166135400-166136600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:166135400-166136600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr1:166135400-166136600	Active TSS	Brain Hippocampus Middle	brain
30	chr1:166135400-166136600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:166135400-166136600	Active TSS	Brain Substantia Nigra	brain
32	chr1:166135400-166136600	Active TSS	Fetal Brain Female	brain
33	chr1:166135400-166136600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr1:166135400-166136600	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:166135400-166136600	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:166135400-166136600	Active TSS	GM12878-XiMat	blood
37	chr1:166135400-166136600	Active TSS	HSMMtube	muscle
38	chr1:166135400-166136800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:166135400-166136800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:166135400-166137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:166135400-166137000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:166135400-166137000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:166135400-166137000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
44	chr1:166135400-166137200	Active TSS	Rectal Smooth Muscle	rectum
45	chr1:166135600-166136600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:166135600-166136600	Active TSS	Brain Cingulate Gyrus	brain
47	chr1:166135600-166136600	Active TSS	Gastric	stomach
48	chr1:166135600-166136600	Active TSS	Ovary	ovary
49	chr1:166135600-166136600	Active TSS	Pancreas	Pancrea
50	chr1:166135600-166136600	Active TSS	A549	lung

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