Variant report

Variant	rs574413048
Chromosome Location	chr3:159480881-159480882
allele	A/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	BHLHE40	chr3:159480843-159480912	K562	blood:	n/a	n/a
2	SMARCB1	chr3:159480566-159483718	Hela-S3	cervix:	n/a	chr3:159483592-159483601
3	EP300	chr3:159480674-159482038	A549	lung:	n/a	chr3:159481639-159481652 chr3:159480947-159480956
4	POLR2A	chr3:159480763-159481717	U87	brain:	n/a	n/a
5	POLR2A	chr3:159480562-159484035	PFSK-1	brain:	n/a	n/a
6	CEBPB	chr3:159480064-159482341	Hela-S3	cervix:	n/a	n/a
7	EP300	chr3:159479975-159481767	A549	lung:	n/a	chr3:159481639-159481652 chr3:159480947-159480956
8	MAX	chr3:159480702-159483613	MCF-7	breast:	n/a	chr3:159481565-159481574 chr3:159482995-159483005 chr3:159483043-159483053
9	TAF1	chr3:159480702-159482392	A549	lung:	n/a	n/a
10	SIN3AK20	chr3:159480781-159481583	A549	lung:	n/a	n/a
11	MYC	chr3:159480872-159480923	MCF-7	breast:	n/a	n/a
12	ZNF263	chr3:159480693-159484031	HEK293-T-REx	kidney:	n/a	chr3:159481608-159481617 chr3:159482218-159482227 chr3:159482461-159482482 chr3:159483138-159483147
13	ETS1	chr3:159480855-159481736	A549	lung:	n/a	chr3:159481118-159481128 chr3:159481118-159481129 chr3:159481594-159481607 chr3:159481595-159481611 chr3:159481120-159481129
14	POLR2A	chr3:159478872-159485842	IMR90	lung:	n/a	n/a
15	SIN3AK20	chr3:159480785-159481226	PFSK-1	brain:	n/a	n/a
16	NR3C1	chr3:159480777-159481745	A549	lung:	n/a	n/a
17	POLR2A	chr3:159480551-159481771	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr3:159480747-159483236	MCF-7	breast:	n/a	n/a
19	STAT3	chr3:159480858-159481042	MCF10A-Er-Src	breast:	n/a	chr3:159480982-159480994
20	POLR2A	chr3:159480647-159483221	A549	lung:	n/a	n/a
21	SMC3	chr3:159479813-159484045	Hela-S3	cervix:	n/a	chr3:159481356-159481366 chr3:159481836-159481846 chr3:159482090-159482100 chr3:159482126-159482136 chr3:159480742-159480749 chr3:159481981-159481988
22	POLR2A	chr3:159480674-159481714	H1-hESC	embryonic stem cell:	n/a	n/a
23	NR3C1	chr3:159480872-159481609	A549	lung:	n/a	n/a
24	POLR2A	chr3:159480668-159482574	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr3:159480666-159482338	HCT-116	colon:	n/a	n/a
26	MAX	chr3:159480680-159481761	H1-hESC	embryonic stem cell:	n/a	chr3:159481565-159481574
27	SMARCC1	chr3:159479275-159481600	Hela-S3	cervix:	n/a	chr3:159479718-159479727
28	JUN	chr3:159480815-159481050	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF143	chr3:159480705-159481655	Hela-S3	cervix:	n/a	chr3:159481553-159481571 chr3:159481602-159481620 chr3:159481248-159481266
30	HA-E2F1	chr3:159480802-159483168	Hela-S3	cervix:	n/a	chr3:159481831-159481843 chr3:159481261-159481270 chr3:159481372-159481382 chr3:159483006-159483018 chr3:159481542-159481551 chr3:159481378-159481387 chr3:159482172-159482184 chr3:159480946-159480956 chr3:159482085-159482097
31	POLR2A	chr3:159480483-159482854	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr3:159480675-159484005	Hela-S3	cervix:	n/a	n/a
33	MAX	chr3:159480629-159482348	ECC-1	luminal epithelium:	n/a	chr3:159481565-159481574
34	FOSL2	chr3:159480686-159481263	A549	lung:	n/a	n/a
35	POLR2A	chr3:159480560-159483811	Hela-S3	cervix:	n/a	n/a
36	CREB1	chr3:159480717-159481722	A549	lung:	n/a	n/a
37	POLR2A	chr3:159480579-159482427	HCT-116	colon:	n/a	n/a
38	TEAD4	chr3:159480663-159481736	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr3:159480606-159482497	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr3:159480081-159481644	Hela-S3	cervix:	n/a	n/a
41	SP1	chr3:159480548-159482516	A549	lung:	n/a	chr3:159481886-159481899 chr3:159481542-159481551 chr3:159481606-159481620 chr3:159481892-159481901 chr3:159481902-159481909 chr3:159482087-159482101 chr3:159481834-159481843 chr3:159482175-159482189 chr3:159481892-159481901 chr3:159481538-159481552 chr3:159481609-159481621 chr3:159481891-159481901 chr3:159482086-159482098 chr3:159482088-159482097 chr3:159481891-159481900
42	USF2	chr3:159479997-159481135	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr3:159480733-159481241	A549	lung:	n/a	n/a
44	BRCA1	chr3:159479495-159481576	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr3:159480618-159481756	A549	lung:	n/a	n/a
46	POLR2A	chr3:159479069-159484734	HUVEC	blood vessel:	n/a	n/a
47	MAX	chr3:159480585-159482561	A549	lung:	n/a	chr3:159481565-159481574
48	TAF1	chr3:159480619-159482529	H1-hESC	embryonic stem cell:	n/a	n/a
49	MXI1	chr3:159480603-159484814	IMR90	lung:	n/a	n/a
50	MAX	chr3:159480703-159481651	A549	lung:	n/a	chr3:159481565-159481574

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:154041649..154042465-chr3:159480471..159481388,2	Hela-S3	cervix:
2	chr21:36261083..36261587-chr3:159480643..159481445,2	Hela-S3	cervix:

Variant related genes	Relation type
IQCJ-SCHIP1	TF binding region
ENSG00000174953	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	esv3335783	chr3:159480158-159484256	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3426837	chr3:159480283-159483031	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159479400-159481000	Flanking Active TSS	HUVEC	blood vessel
2	chr3:159479600-159481000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:159479600-159481000	Flanking Active TSS	NHDF-Ad	bronchial
4	chr3:159479600-159481200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:159479600-159481200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:159479600-159481200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr3:159479600-159481200	Flanking Active TSS	HSMM	muscle
8	chr3:159479600-159481200	Flanking Active TSS	NHEK	skin
9	chr3:159479600-159481400	Flanking Active TSS	HMEC	breast
10	chr3:159479800-159481000	Flanking Active TSS	Osteobl	bone
11	chr3:159479800-159481200	Flanking Active TSS	HSMMtube	muscle
12	chr3:159480000-159481000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:159480000-159481000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:159480000-159481000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr3:159480000-159481400	Flanking Active TSS	NH-A	brain
16	chr3:159480000-159483200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
17	chr3:159480200-159481000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:159480200-159481000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:159480200-159481000	Flanking Active TSS	Fetal Heart	heart
20	chr3:159480200-159481000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:159480200-159481200	Flanking Active TSS	Hela-S3	cervix
22	chr3:159480400-159481200	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr3:159480400-159481400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr3:159480400-159483400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr3:159480400-159483800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr3:159480400-159483800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr3:159480400-159483800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr3:159480400-159484200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr3:159480600-159481000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:159480600-159481000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:159480600-159481000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
32	chr3:159480600-159481000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:159480600-159481000	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr3:159480600-159481000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr3:159480600-159481000	Enhancers	Fetal Brain Male	brain
36	chr3:159480600-159481000	Flanking Active TSS	Fetal Brain Female	brain
37	chr3:159480600-159481000	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr3:159480600-159481000	Active TSS	Fetal Stomach	stomach
39	chr3:159480600-159481000	Enhancers	Gastric	stomach
40	chr3:159480600-159481000	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr3:159480600-159481000	Flanking Active TSS	Right Atrium	heart
42	chr3:159480600-159481000	Flanking Active TSS	Right Ventricle	heart
43	chr3:159480600-159481000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr3:159480600-159481200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:159480600-159481200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:159480600-159481200	Flanking Active TSS	Liver	Liver
47	chr3:159480600-159481200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr3:159480600-159481200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr3:159480600-159481200	Flanking Active TSS	Fetal Lung	lung
50	chr3:159480600-159481200	Flanking Active TSS	Placenta	Placenta

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