Variant report

Variant	rs548873605
Chromosome Location	chr1:166809233-166809234
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	chr1:166808034-166809618	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:166808973-166809302	GM12878	blood:	n/a	n/a
3	TAF1	chr1:166809215-166809533	Hela-S3	cervix:	n/a	n/a
4	YY1	chr1:166808904-166809399	GM12878	blood:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115
5	POLR2A	chr1:166808146-166809567	K562	blood:	n/a	n/a
6	HMGN3	chr1:166808318-166809519	K562	blood:	n/a	n/a
7	TCF7L2	chr1:166809090-166810574	Hela-S3	cervix:	n/a	chr1:166809662-166809669
8	ZNF143	chr1:166809160-166809557	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr1:166808280-166809369	GM12892	blood:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115 chr1:166808739-166808753
10	MXI1	chr1:166809078-166809581	Hela-S3	cervix:	n/a	n/a
11	ELF1	chr1:166808990-166809572	GM12878	blood:	n/a	chr1:166809232-166809244 chr1:166809050-166809062
12	POLR2A	chr1:166808195-166809672	IMR90	lung:	n/a	n/a
13	POLR2A	chr1:166808193-166809297	GM12878	blood:	n/a	n/a
14	MAZ	chr1:166807996-166809840	IMR90	lung:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166809214-166809224 chr1:166808709-166808718
15	POLR2A	chr1:166808210-166809417	ECC-1	luminal epithelium:	n/a	n/a
16	MYC	chr1:166808218-166809307	MCF-7	breast:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166809214-166809224 chr1:166808709-166808718
17	ZNF263	chr1:166809147-166810718	HEK293-T-REx	kidney:	n/a	n/a
18	MAX	chr1:166808043-166809747	HCT-116	colon:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166809214-166809224 chr1:166808709-166808718
19	POLR2A	chr1:166808129-166809369	MCF-7	breast:	n/a	n/a
20	MAZ	chr1:166808241-166809549	GM12878	blood:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166809214-166809224 chr1:166808709-166808718
21	CHD2	chr1:166808195-166809580	Hela-S3	cervix:	n/a	n/a
22	YY1	chr1:166808948-166809305	SK-N-SH_RA	brain:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115
23	POLR2A	chr1:166808164-166809636	GM19193	blood:	n/a	n/a
24	MYC	chr1:166809094-166809627	MCF10A-Er-Src	breast:	n/a	chr1:166809214-166809224
25	POLR2A	chr1:166808927-166809657	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAZ	chr1:166808204-166810278	K562	blood:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166809214-166809224 chr1:166808709-166808718
27	POLR2A	chr1:166808177-166809779	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:166808165-166809551	NB4	blood:	n/a	n/a
29	GABPA	chr1:166808970-166809328	MCF-7	breast:	n/a	chr1:166809041-166809050
30	POLR2A	chr1:166809065-166809242	A549	lung:	n/a	n/a
31	CEBPB	chr1:166809028-166809299	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:166808141-166809573	Hela-S3	cervix:	n/a	n/a
33	HA-E2F1	chr1:166808273-166809485	Hela-S3	cervix:	n/a	chr1:166808510-166808522
34	YY1	chr1:166808944-166809261	GM12891	blood:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115
35	POLR2A	chr1:166807733-166811129	MCF10A-Er-Src	breast:	n/a	n/a
36	REST	chr1:166807871-166809794	H1-neurons	neurons:	n/a	n/a
37	MAX	chr1:166808075-166810096	K562	blood:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166809214-166809224 chr1:166808709-166808718
38	PAX5	chr1:166809059-166809390	GM12892	blood:	n/a	n/a
39	POLR2A	chr1:166807286-166810232	Hela-S3	cervix:	n/a	n/a
40	RCOR1	chr1:166809115-166809846	Hela-S3	cervix:	n/a	n/a
41	YY1	chr1:166808938-166809384	H1-hESC	embryonic stem cell:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115
42	SMARCB1	chr1:166808011-166809760	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:166808175-166809646	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr1:166809120-166809647	H1-hESC	embryonic stem cell:	n/a	chr1:166809266-166809280
45	SIN3A	chr1:166808091-166809651	H1-hESC	embryonic stem cell:	n/a	chr1:166808826-166808839
46	CTCF	chr1:166809180-166809625	GM12878	blood:	n/a	n/a
47	TCF7L2	chr1:166808316-166809740	HCT-116	colon:	n/a	chr1:166809662-166809669
48	POLR2A	chr1:166808188-166809284	MCF-7	breast:	n/a	n/a
49	CEBPB	chr1:166807984-166809815	Hela-S3	cervix:	n/a	chr1:166808183-166808194 chr1:166809668-166809680
50	MAX	chr1:166808117-166809531	ECC-1	luminal epithelium:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166809214-166809224 chr1:166808709-166808718

No.	Distal block	Cell Line	Cell type
1	chr1:166805232..166812474-chr1:166842359..166847542,11	MCF-7	breast:
2	chr1:166805959..166811139-chr1:166841080..166848642,15	MCF-7	breast:
3	chr1:165795265..165796893-chr1:166808551..166810494,2	K562	blood:
4	chr1:166807390..166809881-chr1:167187703..167190795,4	MCF-7	breast:
5	chr1:166806593..166810261-chr1:166844073..166846866,6	K562	blood:
6	chr1:166808237..166810193-chr1:166835815..166838073,2	MCF-7	breast:

Variant related genes	Relation type
POGK	TF binding region
ENSG00000272205	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000152382	Chromatin interaction
ENSG00000225171	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3344806	chr1:166807953-166810501	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a
3	esv3427862	chr1:166808053-166810151	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166807600-166809600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:166807800-166809400	Active TSS	Fetal Muscle Trunk	muscle
3	chr1:166807800-166809600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:166807800-166809600	Active TSS	Psoas Muscle	Psoas
5	chr1:166807800-166810000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr1:166807800-166810400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:166808000-166809400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:166808000-166809400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:166808000-166809400	Active TSS	Brain Cingulate Gyrus	brain
10	chr1:166808000-166809400	Active TSS	Brain Hippocampus Middle	brain
11	chr1:166808000-166809400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:166808000-166809400	Active TSS	Rectal Smooth Muscle	rectum
13	chr1:166808000-166809400	Active TSS	Small Intestine	intestine
14	chr1:166808000-166809400	Active TSS	HSMM	muscle
15	chr1:166808000-166809600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:166808000-166809600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:166808000-166809600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr1:166808000-166809600	Active TSS	Fetal Brain Female	brain
19	chr1:166808000-166809600	Active TSS	Right Ventricle	heart
20	chr1:166808000-166809800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:166808000-166809800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:166808000-166809800	Active TSS	Ovary	ovary
23	chr1:166808000-166809800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr1:166808000-166810400	Active TSS	Aorta	Aorta
25	chr1:166808200-166809400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:166808200-166809400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:166808200-166809400	Active TSS	Primary T cells from cord blood	blood
28	chr1:166808200-166809400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:166808200-166809400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:166808200-166809400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:166808200-166809400	Active TSS	Brain Angular Gyrus	brain
32	chr1:166808200-166809400	Active TSS	Brain Substantia Nigra	brain
33	chr1:166808200-166809400	Active TSS	Colon Smooth Muscle	Colon
34	chr1:166808200-166809400	Active TSS	Fetal Intestine Large	intestine
35	chr1:166808200-166809400	Active TSS	Gastric	stomach
36	chr1:166808200-166809400	Active TSS	Placenta Amnion	Placenta Amnion
37	chr1:166808200-166809600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:166808200-166809600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:166808200-166809600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:166808200-166809600	Active TSS	HSMMtube	muscle
41	chr1:166808200-166809800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:166808200-166809800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:166808200-166809800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:166808200-166809800	Active TSS	Esophagus	oesophagus
45	chr1:166808200-166810000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:166808200-166810200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:166808200-166810200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:166808400-166809400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:166808400-166809400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:166808400-166809400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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