Variant report

Variant	rs373509426
Chromosome Location	chr1:150601835-150601836
allele	A/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	ETS1	chr1:150601627-150602453	A549	lung:	n/a	n/a
2	KAP1	chr1:150601334-150602417	U2OS	brain:	n/a	n/a
3	MYBL2	chr1:150601285-150602599	HepG2	liver:	n/a	n/a
4	SP1	chr1:150601431-150601877	K562	blood:	n/a	chr1:150601439-150601452 chr1:150601437-150601446
5	ZNF143	chr1:150601571-150602381	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:150601083-150602558	GM12891	blood:	n/a	n/a
7	CHD1	chr1:150601316-150602085	H1-hESC	embryonic stem cell:	n/a	chr1:150601858-150601868
8	CUX1	chr1:150601467-150602476	GM12878	blood:	n/a	n/a
9	ZNF143	chr1:150601523-150602384	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr1:150601306-150602588	HepG2	liver:	n/a	n/a
11	REST	chr1:150601271-150602531	HL-60	blood:	n/a	chr1:150601644-150601651
12	IRF3	chr1:150601244-150602407	Hela-S3	cervix:	n/a	chr1:150601675-150601684 chr1:150602270-150602284
13	CHD2	chr1:150601284-150602498	K562	blood:	n/a	chr1:150601858-150601868
14	PML	chr1:150601296-150602559	K562	blood:	n/a	n/a
15	TBL1XR1	chr1:150601452-150602350	K562	blood:	n/a	n/a
16	CREB1	chr1:150601454-150602524	ECC-1	luminal epithelium:	n/a	n/a
17	SP1	chr1:150601224-150603547	HCT-116	colon:	n/a	chr1:150601439-150601452 chr1:150602271-150602281 chr1:150602270-150602282 chr1:150602272-150602281 chr1:150602003-150602012 chr1:150602271-150602280 chr1:150602270-150602282 chr1:150601437-150601446 chr1:150602271-150602281 chr1:150602272-150602281 chr1:150601999-150602013
18	POLR2A	chr1:150601480-150602505	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:150601502-150602174	HepG2	liver:	n/a	n/a
20	FOS	chr1:150601451-150602440	K562	blood:	n/a	chr1:150602144-150602153 chr1:150601677-150601686
21	TAF1	chr1:150601619-150602456	GM12891	blood:	n/a	n/a
22	POLR2A	chr1:150601459-150602496	HepG2	liver:	n/a	n/a
23	MAX	chr1:150601421-150602436	NB4	blood:	n/a	chr1:150601801-150601810
24	MXI1	chr1:150601533-150602492	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAFK	chr1:150601701-150602486	K562	blood:	n/a	n/a
26	CHD1	chr1:150601057-150602437	GM12878	blood:	n/a	chr1:150601858-150601868
27	MAX	chr1:150601337-150601978	ECC-1	luminal epithelium:	n/a	chr1:150601801-150601810
28	HEY1	chr1:150601272-150602503	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:150601163-150603592	HepG2	liver:	n/a	n/a
30	CEBPB	chr1:150601504-150602310	HepG2	liver:	n/a	n/a
31	RFX5	chr1:150601333-150602295	H1-hESC	embryonic stem cell:	n/a	chr1:150601676-150601685
32	JUND	chr1:150601122-150602658	SK-N-SH	brain:	n/a	chr1:150602144-150602153 chr1:150601677-150601686
33	TAF1	chr1:150601724-150602501	SK-N-SH	brain:	n/a	n/a
34	YY1	chr1:150601421-150602528	HCT-116	colon:	n/a	chr1:150602060-150602080 chr1:150602271-150602280 chr1:150601435-150601446
35	TAF1	chr1:150601425-150602485	GM12891	blood:	n/a	n/a
36	CHD2	chr1:150601369-150602481	H1-hESC	embryonic stem cell:	n/a	chr1:150601858-150601868
37	CCNT2	chr1:150601627-150602042	K562	blood:	n/a	chr1:150602003-150602012
38	MAX	chr1:150601430-150602498	Hela-S3	cervix:	n/a	chr1:150601801-150601810
39	POLR2A	chr1:150601477-150602446	GM10847	blood:	n/a	n/a
40	EP300	chr1:150601668-150602199	T-47D	breast:	n/a	n/a
41	TAF1	chr1:150601364-150602541	H1-hESC	embryonic stem cell:	n/a	n/a
42	HEY1	chr1:150601454-150602182	HepG2	liver:	n/a	n/a
43	MYC	chr1:150601515-150602389	MCF10A-Er-Src	breast:	n/a	chr1:150601801-150601810
44	TAF1	chr1:150601549-150602576	A549	lung:	n/a	n/a
45	POU2F2	chr1:150601333-150602502	GM12891	blood:	n/a	n/a
46	MXI1	chr1:150601365-150602499	GM12878	blood:	n/a	n/a
47	CEBPB	chr1:150601366-150602329	A549	lung:	n/a	n/a
48	SP1	chr1:150601352-150602538	H1-hESC	embryonic stem cell:	n/a	chr1:150601439-150601452 chr1:150602271-150602281 chr1:150602270-150602282 chr1:150602272-150602281 chr1:150602003-150602012 chr1:150602271-150602280 chr1:150602270-150602282 chr1:150601437-150601446 chr1:150602271-150602281 chr1:150602272-150602281 chr1:150601999-150602013
49	SIN3A	chr1:150601248-150602514	H1-hESC	embryonic stem cell:	n/a	n/a
50	PBX3	chr1:150601407-150601991	A549	lung:	n/a	chr1:150601661-150601681 chr1:150601676-150601685

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150601789-150601839	PANC-1	pancreas:	n/a
2	chr1:150601807-150601857	HCF	heart:	n/a
3	chr1:150601789-150601839	HEEpiC	esophagus:	n/a
4	chr1:150601807-150601857	BE2_C	brain:	n/a
5	chr1:150601789-150601839	HCPEpiC	choroid plexus:	n/a
6	chr1:150601807-150601857	HRCEpiC	kidney:	n/a
7	chr1:150601807-150601857	K562	blood:	n/a
8	chr1:150601807-150601857	Jurkat	blood:	n/a
9	chr1:150601807-150601857	SK-N-MC	brain:	n/a
10	chr1:150601789-150601839	CMK	blood:	n/a
11	chr1:150601807-150601857	AG04449	skin:	fetal
12	chr1:150601807-150601857	Hela-S3	cervix:	n/a
13	chr1:150601789-150601839	U87	brain:	n/a
14	chr1:150601789-150601839	HCF	heart:	n/a
15	chr1:150601789-150601839	GM19239	blood:	n/a
16	chr1:150601807-150601857	HIPEpiC	eye:	n/a
17	chr1:150601789-150601839	PFSK-1	brain:	n/a
18	chr1:150601789-150601839	AoSMC	blood vessel:	n/a
19	chr1:150601807-150601857	HCM	heart:	n/a
20	chr1:150601789-150601839	BE2_C	brain:	n/a
21	chr1:150601807-150601857	AoSMC	blood vessel:	n/a
22	chr1:150601789-150601839	MCF-7	breast:	n/a
23	chr1:150601789-150601839	HMEC	breast:	n/a
24	chr1:150601789-150601839	AG04450	lung:	fetal
25	chr1:150601789-150601839	HL-60	blood:	n/a
26	chr1:150601789-150601839	SK-N-SH	brain:	n/a
27	chr1:150601807-150601857	GM19239	blood:	n/a
28	chr1:150601789-150601839	HCT-116	colon:	n/a
29	chr1:150601789-150601839	NB4	blood:	n/a
30	chr1:150601807-150601857	BJ	skin:	n/a
31	chr1:150601789-150601839	NHDF-neo	bronchial:	n/a
32	chr1:150601807-150601857	NHBE	bronchial:	n/a
33	chr1:150601789-150601839	HCM	heart:	n/a
34	chr1:150601807-150601857	SKMC	muscle:	n/a
35	chr1:150601807-150601857	AG09319	gingival:	n/a
36	chr1:150601807-150601857	U87	brain:	n/a
37	chr1:150601807-150601857	GM06990	blood:	n/a
38	chr1:150601807-150601857	SAEC	small airway:	n/a
39	chr1:150601807-150601857	GM12891	blood:	n/a
40	chr1:150601789-150601839	HRPEpiC	eye:	n/a
41	chr1:150601789-150601839	AG10803	skin:	n/a
42	chr1:150601789-150601839	GM12891	blood:	n/a
43	chr1:150601789-150601839	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:150601807-150601857	HCT-116	colon:	n/a
45	chr1:150601789-150601839	SAEC	small airway:	n/a
46	chr1:150601789-150601839	HepG2	liver:	n/a
47	chr1:150601807-150601857	HAEpiC	amniotic membrane:	n/a
48	chr1:150601789-150601839	AG09309	skin:	n/a
49	chr1:150601789-150601839	ProgFib	skin:	n/a
50	chr1:150601789-150601839	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150459471..150461027-chr1:150601141..150603564,2	K562	blood:
2	chr1:150549047..150553046-chr1:150599453..150603954,9	MCF-7	breast:
3	chr1:150600957..150603301-chr1:150669104..150670860,3	MCF-7	breast:
4	chr1:150600620..150604710-chr1:150667156..150670884,6	K562	blood:
5	chr1:150600086..150604497-chr1:150798595..150803015,4	MCF-7	breast:
6	chr1:150600704..150602423-chr1:150722921..150725680,2	MCF-7	breast:
7	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
8	chr1:150600649..150603708-chr1:150666872..150671304,5	K562	blood:
9	chr1:150458113..150460742-chr1:150599904..150603804,4	MCF-7	breast:
10	chr1:150601356..150602327-chr16:71929417..71930053,2	Hela-S3	cervix:
11	chr1:150532182..150537720-chr1:150588719..150604935,28	MCF-7	breast:
12	chr1:150533703..150535548-chr1:150601310..150603343,2	K562	blood:
13	chr1:45987145..45987741-chr1:150601221..150601934,2	Hela-S3	cervix:
14	chr1:150548752..150555486-chr1:150599368..150605834,15	MCF-7	breast:
15	chr1:150523106..150526873-chr1:150601148..150603781,4	K562	blood:
16	chr1:150547986..150553838-chr1:150598744..150606232,19	K562	blood:
17	chr1:150520854..150524966-chr1:150599341..150603058,4	K562	blood:
18	chr1:150601091..150602624-chr1:150945367..150947119,2	MCF-7	breast:
19	chr1:150531290..150540028-chr1:150591374..150603951,29	MCF-7	breast:
20	chr1:150600280..150603071-chr17:56707754..56709707,2	MCF-7	breast:
21	chr1:150600402..150602469-chr12:6642434..6645132,2	MCF-7	breast:

Variant related genes	Relation type
ENSA	TF binding region
ENSA	CpG island
ENSG00000163131	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143457	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000264584	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000255966	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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv16022	chr1:150601192-150602306	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr1:150600200-150603000	Active TSS	Right Ventricle	heart
2	chr1:150600400-150603200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:150600400-150603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:150600400-150603600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:150600400-150603800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:150600600-150602800	Active TSS	Esophagus	oesophagus
7	chr1:150600600-150603000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:150600600-150603200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:150600600-150604200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:150600800-150602800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:150600800-150602800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:150600800-150602800	Active TSS	Placenta	Placenta
13	chr1:150600800-150603000	Active TSS	Aorta	Aorta
14	chr1:150600800-150603000	Active TSS	Brain Angular Gyrus	brain
15	chr1:150600800-150603200	Active TSS	Colonic Mucosa	Colon
16	chr1:150600800-150603400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:150600800-150603800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:150601000-150602400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:150601000-150602600	Active TSS	Fetal Muscle Trunk	muscle
20	chr1:150601000-150602600	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr1:150601000-150602800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:150601000-150602800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:150601000-150602800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:150601000-150602800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:150601000-150602800	Active TSS	Brain Substantia Nigra	brain
26	chr1:150601000-150602800	Active TSS	Colon Smooth Muscle	Colon
27	chr1:150601000-150602800	Active TSS	Fetal Intestine Large	intestine
28	chr1:150601000-150602800	Active TSS	Pancreas	Pancrea
29	chr1:150601000-150602800	Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:150601000-150602800	Active TSS	GM12878-XiMat	blood
31	chr1:150601000-150602800	Active TSS	NHDF-Ad	bronchial
32	chr1:150601000-150603000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:150601000-150603000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:150601000-150603000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:150601000-150603000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:150601000-150603000	Active TSS	Left Ventricle	heart
37	chr1:150601000-150603000	Active TSS	Psoas Muscle	Psoas
38	chr1:150601000-150603000	Active TSS	A549	lung
39	chr1:150601000-150603000	Active TSS	K562	blood
40	chr1:150601000-150603200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:150601000-150603200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:150601000-150603200	Active TSS	Duodenum Mucosa	Duodenum
43	chr1:150601000-150603200	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:150601000-150603200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr1:150601000-150603200	Active TSS	NHLF	lung
46	chr1:150601000-150603400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:150601000-150603400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:150601000-150603400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:150601000-150603600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:150601000-150604000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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