Variant report

Variant	rs576978429
Chromosome Location	chr1:178994904-178994905
allele	G/T
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	CTCFL	chr1:178994735-178994982	K562	blood:	n/a	n/a
2	SP1	chr1:178994557-178995081	H1-hESC	embryonic stem cell:	n/a	chr1:178995014-178995026 chr1:178995015-178995024 chr1:178995027-178995037 chr1:178994727-178994741
3	MYC	chr1:178994708-178996126	Hela-S3	cervix:	n/a	chr1:178995016-178995026
4	YY1	chr1:178994737-178995702	ECC-1	luminal epithelium:	n/a	chr1:178994812-178994826 chr1:178995018-178995027 chr1:178994908-178994922 chr1:178994812-178994821 chr1:178995504-178995518
5	TBP	chr1:178994554-178995946	H1-hESC	embryonic stem cell:	n/a	n/a
6	EP300	chr1:178994637-178995165	A549	lung:	n/a	chr1:178994709-178994723 chr1:178994838-178994847 chr1:178994834-178994843
7	EGR1	chr1:178994406-178996036	HCT-116	colon:	n/a	chr1:178995078-178995091 chr1:178995015-178995025 chr1:178995104-178995118 chr1:178994836-178994845 chr1:178995018-178995031
8	POLR2A	chr1:178994316-178996287	K562	blood:	n/a	n/a
9	EBF1	chr1:178994724-178996252	GM12878	blood:	n/a	n/a
10	TCF12	chr1:178994740-178994935	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPD	chr1:178994705-178995593	HepG2	liver:	n/a	n/a
12	YY1	chr1:178994380-178995080	H1-hESC	embryonic stem cell:	n/a	chr1:178994812-178994826 chr1:178995018-178995027 chr1:178994908-178994922 chr1:178994812-178994821
13	POLR2A	chr1:178994751-178995884	A549	lung:	n/a	n/a
14	POLR2A	chr1:178994560-178996030	K562	blood:	n/a	n/a
15	RFX5	chr1:178994631-178996250	Hela-S3	cervix:	n/a	n/a
16	TAF7	chr1:178994471-178995023	H1-hESC	embryonic stem cell:	n/a	n/a
17	SMARCB1	chr1:178994232-178995968	Hela-S3	cervix:	n/a	n/a
18	EGR1	chr1:178994600-178995495	H1-hESC	embryonic stem cell:	n/a	chr1:178995078-178995091 chr1:178995015-178995025 chr1:178995104-178995118 chr1:178994836-178994845 chr1:178995018-178995031
19	CTCF	chr1:178994760-178994910	GM12873	blood:	n/a	n/a
20	MAX	chr1:178994645-178996075	SK-N-SH	brain:	n/a	chr1:178995016-178995026
21	MAZ	chr1:178994405-178996650	IMR90	lung:	n/a	chr1:178995016-178995026
22	CTCF	chr1:178994811-178995017	Spleen_OC	spleen:	n/a	chr1:178994908-178994921
23	MAX	chr1:178994467-178996244	A549	lung:	n/a	chr1:178995016-178995026
24	FOXP2	chr1:178994743-178995799	PFSK-1	brain:	n/a	n/a
25	EP300	chr1:178994772-178995093	H1-hESC	embryonic stem cell:	n/a	chr1:178994838-178994847 chr1:178994834-178994843
26	ETS1	chr1:178994519-178995914	K562	blood:	n/a	chr1:178995016-178995027 chr1:178995720-178995731
27	RFX5	chr1:178994775-178994969	HepG2	liver:	n/a	n/a
28	RAD21	chr1:178994557-178995007	H1-hESC	embryonic stem cell:	n/a	n/a
29	GATA3	chr1:178994576-178996254	A549	lung:	n/a	chr1:178994769-178994779 chr1:178994704-178994714 chr1:178995963-178995980 chr1:178995969-178995985
30	POLR2A	chr1:178994675-178996041	HEK293	kidney:	n/a	n/a
31	EGR1	chr1:178994721-178995491	GM12878	blood:	n/a	chr1:178995078-178995091 chr1:178995015-178995025 chr1:178995104-178995118 chr1:178994836-178994845 chr1:178995018-178995031
32	TEAD4	chr1:178994358-178996645	K562	blood:	n/a	chr1:178996267-178996276
33	ELK1	chr1:178994561-178995081	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr1:178994753-178995850	K562	blood:	n/a	n/a
35	POLR2A	chr1:178994470-178995115	SK-N-MC	brain:	n/a	n/a
36	CTCF	chr1:178994407-178994989	K562	blood:	n/a	chr1:178994908-178994921
37	POLR2A	chr1:178994658-178996033	GM12892	blood:	n/a	n/a
38	MAX	chr1:178994590-178995125	H1-hESC	embryonic stem cell:	n/a	chr1:178995016-178995026
39	POLR2A	chr1:178994029-178996204	K562	blood:	n/a	n/a
40	POLR2A	chr1:178994327-178996348	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:178994682-178995929	HUVEC	blood vessel:	n/a	n/a
42	TCF12	chr1:178994213-178995132	A549	lung:	n/a	n/a
43	SP1	chr1:178994448-178995613	A549	lung:	n/a	chr1:178995014-178995026 chr1:178995311-178995320 chr1:178995082-178995093 chr1:178995015-178995024 chr1:178995027-178995037 chr1:178994727-178994741
44	MAX	chr1:178994623-178995200	SK-N-SH	brain:	n/a	chr1:178995016-178995026
45	ARID3A	chr1:178994831-178995035	HepG2	liver:	n/a	n/a
46	POLR2A	chr1:178994636-178995992	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr1:178994780-178994930	SK-N-SH_RA	brain:	n/a	chr1:178994908-178994921
48	ZNF143	chr1:178994183-178995707	H1-hESC	embryonic stem cell:	n/a	chr1:178994833-178994843
49	TAF1	chr1:178994555-178995853	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr1:178994566-178995089	T-47D	breast:	n/a	chr1:178994709-178994723 chr1:178994838-178994847 chr1:178994834-178994843

No.	Distal block	Cell Line	Cell type
1	chr1:178994647..178996585-chr1:179051040..179053373,3	MCF-7	breast:
2	chr1:178994809..178995971-chr5:179049840..179051236,5	Hela-S3	cervix:
3	chr1:178994037..178996559-chr6:26216842..26218993,2	MCF-7	breast:
4	chr1:178510389..178513760-chr1:178993228..178995789,4	MCF-7	breast:
5	chr1:68962351..68962919-chr1:178994803..178995407,2	Hela-S3	cervix:
6	chr1:178994859..178995500-chr17:56084039..56084675,2	Hela-S3	cervix:
7	chr1:178993182..178999783-chr1:179045102..179052535,14	MCF-7	breast:
8	chr1:178693031..178696022-chr1:178993845..178996341,3	MCF-7	breast:

Variant related genes	Relation type
FAM20B	TF binding region
ENSG00000186283	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000136450	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000213057	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000184909	Chromatin interaction
ENSG00000116191	Chromatin interaction
ENSG00000234264	Chromatin interaction
ENSG00000024526	Chromatin interaction
ENSG00000273062	Chromatin interaction

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	esv3420967	chr1:178993954-178996502	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	esv3396952	chr1:178994279-178996377	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178994000-178996200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:178994000-178996400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:178994200-178995400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:178994200-178996000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr1:178994200-178996000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:178994200-178996000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:178994200-178996000	Active TSS	Brain Hippocampus Middle	brain
8	chr1:178994200-178996000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:178994200-178996000	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:178994200-178996200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:178994200-178996200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:178994200-178996200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:178994200-178996200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:178994200-178996200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:178994200-178996200	Active TSS	Fetal Lung	lung
16	chr1:178994200-178996200	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:178994200-178996400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:178994200-178996400	Active TSS	Aorta	Aorta
19	chr1:178994200-178996600	Active TSS	Colonic Mucosa	Colon
20	chr1:178994200-178996800	Active TSS	Psoas Muscle	Psoas
21	chr1:178994200-178996800	Active TSS	NHDF-Ad	bronchial
22	chr1:178994400-178995000	Active TSS	Right Atrium	heart
23	chr1:178994400-178995600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr1:178994400-178996000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:178994400-178996000	Active TSS	Primary T cells from cord blood	blood
26	chr1:178994400-178996000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:178994400-178996000	Active TSS	Brain Angular Gyrus	brain
28	chr1:178994400-178996000	Active TSS	Brain Anterior Caudate	brain
29	chr1:178994400-178996000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:178994400-178996000	Active TSS	Fetal Kidney	kidney
31	chr1:178994400-178996200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:178994400-178996200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:178994400-178996200	Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:178994400-178996200	Active TSS	Gastric	stomach
35	chr1:178994400-178996200	Active TSS	Left Ventricle	heart
36	chr1:178994400-178996200	Active TSS	Lung	lung
37	chr1:178994400-178996200	Active TSS	Pancreas	Pancrea
38	chr1:178994400-178996200	Active TSS	NHEK	skin
39	chr1:178994400-178996400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:178994400-178996400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr1:178994400-178996400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:178994400-178996400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:178994400-178996400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr1:178994400-178996400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:178994400-178996400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:178994400-178996400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr1:178994400-178996600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:178994400-178996600	Active TSS	Ovary	ovary
49	chr1:178994400-178996800	Active TSS	Right Ventricle	heart
50	chr1:178994400-178997000	Active TSS	HMEC	breast

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