Variant report

Variant	rs182163474
Chromosome Location	chr1:166809086-166809087
allele	C/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	POLR2A	chr1:166808034-166809618	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:166808973-166809302	GM12878	blood:	n/a	n/a
3	YY1	chr1:166808904-166809399	GM12878	blood:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115
4	POLR2A	chr1:166808146-166809567	K562	blood:	n/a	n/a
5	HMGN3	chr1:166808318-166809519	K562	blood:	n/a	n/a
6	YY1	chr1:166808280-166809369	GM12892	blood:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115 chr1:166808739-166808753
7	MXI1	chr1:166809078-166809581	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr1:166808990-166809572	GM12878	blood:	n/a	chr1:166809232-166809244 chr1:166809050-166809062
9	POLR2A	chr1:166808195-166809672	IMR90	lung:	n/a	n/a
10	POLR2A	chr1:166808193-166809297	GM12878	blood:	n/a	n/a
11	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
12	POLR2A	chr1:166808197-166809160	HCT-116	colon:	n/a	n/a
13	POLR2A	chr1:166808210-166809417	ECC-1	luminal epithelium:	n/a	n/a
14	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
15	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
16	POLR2A	chr1:166808129-166809369	MCF-7	breast:	n/a	n/a
17	ELF1	chr1:166808276-166809213	K562	blood:	n/a	chr1:166808450-166808463 chr1:166808829-166808841 chr1:166809050-166809062
18	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
19	CHD2	chr1:166808195-166809580	Hela-S3	cervix:	n/a	n/a
20	YY1	chr1:166808948-166809305	SK-N-SH_RA	brain:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115
21	POLR2A	chr1:166808164-166809636	GM19193	blood:	n/a	n/a
22	POLR2A	chr1:166808927-166809657	H1-hESC	embryonic stem cell:	n/a	n/a
23	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
24	POLR2A	chr1:166808177-166809779	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:166808165-166809551	NB4	blood:	n/a	n/a
26	GABPA	chr1:166808970-166809328	MCF-7	breast:	n/a	chr1:166809041-166809050
27	POLR2A	chr1:166809065-166809242	A549	lung:	n/a	n/a
28	CEBPB	chr1:166809028-166809299	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:166808141-166809573	Hela-S3	cervix:	n/a	n/a
30	HA-E2F1	chr1:166808273-166809485	Hela-S3	cervix:	n/a	chr1:166808510-166808522
31	YY1	chr1:166808944-166809261	GM12891	blood:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115
32	POLR2A	chr1:166807733-166811129	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr1:166808949-166809225	HCT-116	colon:	n/a	n/a
34	REST	chr1:166807871-166809794	H1-neurons	neurons:	n/a	n/a
35	HEY1	chr1:166809014-166809203	HepG2	liver:	n/a	n/a
36	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
37	PAX5	chr1:166809059-166809390	GM12892	blood:	n/a	n/a
38	POLR2A	chr1:166807286-166810232	Hela-S3	cervix:	n/a	n/a
39	YY1	chr1:166808938-166809384	H1-hESC	embryonic stem cell:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115
40	SMARCB1	chr1:166808011-166809760	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:166808175-166809646	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3A	chr1:166808091-166809651	H1-hESC	embryonic stem cell:	n/a	chr1:166808826-166808839
43	TCF7L2	chr1:166808316-166809740	HCT-116	colon:	n/a	chr1:166809662-166809669
44	POLR2A	chr1:166808188-166809284	MCF-7	breast:	n/a	n/a
45	CEBPB	chr1:166807984-166809815	Hela-S3	cervix:	n/a	chr1:166808183-166808194 chr1:166809668-166809680
46	POLR2A	chr1:166808333-166809226	HepG2	liver:	n/a	n/a
47	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
48	ZBTB7A	chr1:166808409-166809266	K562	blood:	n/a	n/a
49	TCF3	chr1:166808993-166809281	GM12878	blood:	n/a	n/a
50	CEBPB	chr1:166809054-166809301	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:166805232..166812474-chr1:166842359..166847542,11	MCF-7	breast:
2	chr1:166808293..166809161-chr19:2050789..2051603,2	Hela-S3	cervix:
3	chr1:166805959..166811139-chr1:166841080..166848642,15	MCF-7	breast:
4	chr1:165795265..165796893-chr1:166808551..166810494,2	K562	blood:
5	chr1:166807390..166809881-chr1:167187703..167190795,4	MCF-7	breast:
6	chr1:166806593..166810261-chr1:166844073..166846866,6	K562	blood:
7	chr1:166808237..166810193-chr1:166835815..166838073,2	MCF-7	breast:
8	chr1:166808206..166809091-chr15:72523170..72524154,2	Hela-S3	cervix:
9	chr1:166808599..166809122-chr15:59396935..59397740,2	Hela-S3	cervix:

Variant related genes	Relation type
POGK	TF binding region
ENSG00000143179	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000157456	Chromatin interaction
ENSG00000152382	Chromatin interaction
ENSG00000099875	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000225171	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	chr1:166808200-166809200	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:166808200-166809400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:166808200-166809400	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:166808200-166809400	Active TSS	Primary T cells from cord blood	blood
29	chr1:166808200-166809400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:166808200-166809400	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr1:166808200-166809400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:166808200-166809400	Active TSS	Brain Angular Gyrus	brain
33	chr1:166808200-166809400	Active TSS	Brain Substantia Nigra	brain
34	chr1:166808200-166809400	Active TSS	Colon Smooth Muscle	Colon
35	chr1:166808200-166809400	Active TSS	Fetal Intestine Large	intestine
36	chr1:166808200-166809400	Active TSS	Gastric	stomach
37	chr1:166808200-166809400	Active TSS	Placenta Amnion	Placenta Amnion
38	chr1:166808200-166809600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:166808200-166809600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:166808200-166809600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:166808200-166809600	Active TSS	HSMMtube	muscle
42	chr1:166808200-166809800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:166808200-166809800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:166808200-166809800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:166808200-166809800	Active TSS	Esophagus	oesophagus
46	chr1:166808200-166810000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:166808200-166810200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:166808200-166810200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:166808400-166809200	Active TSS	Primary B cells from cord blood	blood
50	chr1:166808400-166809200	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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