Variant report

Variant	rs374264702
Chromosome Location	chr1:166808290-166808291
allele	-/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	MAX	chr1:166808252-166808891	HUVEC	blood vessel:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166808709-166808718
2	POLR2A	chr1:166808034-166809618	GM12892	blood:	n/a	n/a
3	CHD2	chr1:166808263-166808853	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:166806518-166808834	K562	blood:	n/a	n/a
5	POLR2A	chr1:166808199-166808803	PBDE	blood:	n/a	n/a
6	ETS1	chr1:166808222-166808668	A549	lung:	n/a	chr1:166808569-166808579 chr1:166808565-166808578
7	POLR2A	chr1:166808232-166808897	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:166808146-166809567	K562	blood:	n/a	n/a
9	NR2F2	chr1:166807983-166808723	K562	blood:	n/a	n/a
10	MAX	chr1:166808228-166808872	A549	lung:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166808709-166808718
11	MYC	chr1:166808234-166808844	H1-hESC	embryonic stem cell:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166808709-166808718
12	TAF1	chr1:166808096-166808858	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr1:166808280-166808871	A549	lung:	n/a	n/a
14	HCFC1	chr1:166807862-166808929	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr1:166808205-166808846	K562	blood:	n/a	chr1:166808710-166808719
16	SP1	chr1:166808245-166808864	GM12878	blood:	n/a	chr1:166808510-166808519 chr1:166808720-166808734 chr1:166808697-166808711 chr1:166808506-166808515 chr1:166808653-166808667 chr1:166808511-166808520 chr1:166808511-166808520
17	PML	chr1:166808258-166808882	MCF-7	breast:	n/a	n/a
18	POLR2A	chr1:166808234-166808899	HUVEC	blood vessel:	n/a	n/a
19	TCF7L2	chr1:166808174-166808812	Hela-S3	cervix:	n/a	n/a
20	YY1	chr1:166808280-166809369	GM12892	blood:	n/a	chr1:166809049-166809058 chr1:166809101-166809120 chr1:166809107-166809115 chr1:166808739-166808753
21	GABPA	chr1:166808204-166808857	K562	blood:	n/a	chr1:166808814-166808823
22	ELK1	chr1:166808253-166808807	Hela-S3	cervix:	n/a	n/a
23	UBTF	chr1:166808157-166808898	K562	blood:	n/a	n/a
24	CBX3	chr1:166808008-166808896	K562	blood:	n/a	n/a
25	MYC	chr1:166808033-166808864	K562	blood:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166808709-166808718
26	POLR2A	chr1:166808195-166809672	IMR90	lung:	n/a	n/a
27	POLR2A	chr1:166808193-166809297	GM12878	blood:	n/a	n/a
28	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
29	POLR2A	chr1:166808236-166808898	U87	brain:	n/a	n/a
30	POLR2A	chr1:166808197-166809160	HCT-116	colon:	n/a	n/a
31	MAX	chr1:166808186-166808929	SK-N-SH	brain:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166808709-166808718
32	HEY1	chr1:166808210-166808830	K562	blood:	n/a	chr1:166808815-166808830
33	ELF1	chr1:166808131-166808840	K562	blood:	n/a	chr1:166808450-166808463
34	SIN3AK20	chr1:166808235-166808915	K562	blood:	n/a	n/a
35	POLR2A	chr1:166808210-166809417	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr1:166808206-166808972	GM12878	blood:	n/a	n/a
37	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
38	GTF2F1	chr1:166808026-166808806	Hela-S3	cervix:	n/a	n/a
39	ZBTB7A	chr1:166808205-166808938	ECC-1	luminal epithelium:	n/a	n/a
40	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
41	ZC3H11A	chr1:166807994-166808732	K562	blood:	n/a	n/a
42	POLR2A	chr1:166808129-166809369	MCF-7	breast:	n/a	n/a
43	USF2	chr1:166808227-166808871	Hela-S3	cervix:	n/a	n/a
44	ELF1	chr1:166808276-166809213	K562	blood:	n/a	chr1:166808450-166808463 chr1:166808829-166808841 chr1:166809050-166809062
45	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
46	ETS1	chr1:166808260-166808837	K562	blood:	n/a	chr1:166808569-166808579 chr1:166808565-166808578
47	CHD2	chr1:166808195-166809580	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:166808266-166809013	Gliobla	brain:	n/a	n/a
49	MYC	chr1:166808269-166808998	HepG2	liver:	n/a	chr1:166808709-166808719 chr1:166808708-166808719 chr1:166808722-166808732 chr1:166808709-166808719 chr1:166808709-166808718
50	POLR2A	chr1:166808164-166809636	GM19193	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166808266-166808316	SAEC	small airway:	n/a
2	chr1:166808266-166808316	AG09319	gingival:	n/a
3	chr1:166808266-166808316	MCF-7	breast:	n/a
4	chr1:166808266-166808316	Hela-S3	cervix:	n/a
5	chr1:166808266-166808316	NT2-D1	testis:	n/a
6	chr1:166808266-166808316	HIPEpiC	eye:	n/a
7	chr1:166808266-166808316	HAEpiC	amniotic membrane:	n/a
8	chr1:166808266-166808316	NB4	blood:	n/a
9	chr1:166808266-166808316	AG09309	skin:	n/a
10	chr1:166808266-166808316	IMR90	lung:	fetal
11	chr1:166808266-166808316	AoSMC	blood vessel:	n/a
12	chr1:166808266-166808316	AG04450	lung:	fetal
13	chr1:166808266-166808316	RPTEC	kidney:	n/a
14	chr1:166808266-166808316	HMEC	breast:	n/a
15	chr1:166808266-166808316	LNCaP	prostate:	n/a
16	chr1:166808266-166808316	Hepatocyte	liver:	n/a
17	chr1:166808266-166808316	GM06990	blood:	n/a
18	chr1:166808266-166808316	AG04449	skin:	fetal
19	chr1:166808266-166808316	CMK	blood:	n/a
20	chr1:166808266-166808316	ovcar-3	ovarian:	n/a
21	chr1:166808266-166808316	Caco-2	colon:	n/a
22	chr1:166808266-166808316	NHBE	bronchial:	n/a
23	chr1:166808266-166808316	HUVEC	blood vessel:	n/a
24	chr1:166808266-166808316	HRCEpiC	kidney:	n/a
25	chr1:166808266-166808316	NH-A	brain:	n/a
26	chr1:166808266-166808316	HPAEpiC	pulmonary alveolar:	n/a
27	chr1:166808266-166808316	A549	lung:	n/a
28	chr1:166808266-166808316	SK-N-SH_RA	brain:	n/a
29	chr1:166808266-166808316	HL-60	blood:	n/a
30	chr1:166808266-166808316	HEK293	kidney:	embryo
31	chr1:166808266-166808316	T-47D	breast:	n/a
32	chr1:166808266-166808316	HCT-116	colon:	n/a
33	chr1:166808266-166808316	HCF	heart:	n/a
34	chr1:166808266-166808316	SKMC	muscle:	n/a
35	chr1:166808266-166808316	HepG2	liver:	n/a
36	chr1:166808266-166808316	HCM	heart:	n/a
37	chr1:166808266-166808316	K562	blood:	n/a
38	chr1:166808266-166808316	HRPEpiC	eye:	n/a
39	chr1:166808266-166808316	PANC-1	pancreas:	n/a
40	chr1:166808266-166808316	AG10803	skin:	n/a
41	chr1:166808266-166808316	NHDF-neo	bronchial:	n/a
42	chr1:166808266-166808316	U87	brain:	n/a
43	chr1:166808266-166808316	GM12878	blood:	n/a
44	chr1:166808266-166808316	BE2_C	brain:	n/a
45	chr1:166808266-166808316	PFSK-1	brain:	n/a
46	chr1:166808266-166808316	SK-N-MC	brain:	n/a
47	chr1:166808266-166808316	HEEpiC	esophagus:	n/a
48	chr1:166808266-166808316	BJ	skin:	n/a
49	chr1:166808266-166808316	GM19239	blood:	n/a
50	chr1:166808266-166808316	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:166805232..166812474-chr1:166842359..166847542,11	MCF-7	breast:
2	chr1:166808183..166808891-chr2:88315947..88316502,2	Hela-S3	cervix:
3	chr1:166649643..166651708-chr1:166806859..166808634,2	MCF-7	breast:
4	chr1:166805959..166811139-chr1:166841080..166848642,15	MCF-7	breast:
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	chr1:166806409..166808484-chr1:167002328..167004286,2	K562	blood:
9	chr1:166808206..166809091-chr15:72523170..72524154,2	Hela-S3	cervix:
10	chr1:166808283..166808793-chr18:9137108..9137608,2	Hela-S3	cervix:

Variant related genes	Relation type
POGK	TF binding region
POGK	CpG island
ENSG00000101745	Chromatin interaction
ENSG00000225171	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000152382	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000222724	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	chr1:166807400-166808400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:166807400-166808400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:166807400-166808400	Flanking Active TSS	K562	blood
4	chr1:166807400-166808600	Flanking Active TSS	Dnd41	blood
5	chr1:166807600-166808400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:166807600-166808400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:166807600-166808400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:166807600-166808400	Flanking Active TSS	Fetal Lung	lung
9	chr1:166807600-166808400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr1:166807600-166808600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:166807600-166809000	Active TSS	Brain Germinal Matrix	brain
12	chr1:166807600-166809600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:166807800-166808400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:166807800-166808400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:166807800-166808400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr1:166807800-166808400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:166807800-166808400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:166807800-166808400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr1:166807800-166808400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:166807800-166808400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr1:166807800-166808400	Flanking Active TSS	Liver	Liver
22	chr1:166807800-166808400	Flanking Active TSS	Colonic Mucosa	Colon
23	chr1:166807800-166808400	Flanking Active TSS	Fetal Kidney	kidney
24	chr1:166807800-166808400	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr1:166807800-166808400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:166807800-166808400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr1:166807800-166808400	Flanking Active TSS	Stomach Mucosa	stomach
28	chr1:166807800-166808400	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr1:166807800-166808400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:166807800-166808400	Flanking Active TSS	NH-A	brain
31	chr1:166807800-166808400	Flanking Active TSS	NHEK	skin
32	chr1:166807800-166808400	Flanking Active TSS	NHLF	lung
33	chr1:166807800-166808400	Flanking Active TSS	Osteobl	bone
34	chr1:166807800-166808600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:166807800-166808600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:166807800-166808600	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr1:166807800-166808600	Flanking Active TSS	Hela-S3	cervix
38	chr1:166807800-166808600	Flanking Active TSS	HMEC	breast
39	chr1:166807800-166809400	Active TSS	Fetal Muscle Trunk	muscle
40	chr1:166807800-166809600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr1:166807800-166809600	Active TSS	Psoas Muscle	Psoas
42	chr1:166807800-166810000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr1:166807800-166810400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:166808000-166808400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr1:166808000-166808400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr1:166808000-166808400	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr1:166808000-166808400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:166808000-166808400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:166808000-166808400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr1:166808000-166808400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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