Variant report

Variant	rs568248118
Chromosome Location	chr3:159481526-159481527
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	CTCF	chr3:159481523-159481626	A549	lung:	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	CTCF	chr3:159481400-159481550	NHEK	skin:	n/a	n/a
9	MAX	chr3:159480702-159483613	MCF-7	breast:	n/a	chr3:159481565-159481574 chr3:159482995-159483005 chr3:159483043-159483053
10	TAF1	chr3:159480702-159482392	A549	lung:	n/a	n/a
11	MAZ	chr3:159481340-159481597	K562	blood:	n/a	chr3:159481565-159481574
12	SIN3AK20	chr3:159480781-159481583	A549	lung:	n/a	n/a
13	ZNF263	chr3:159480693-159484031	HEK293-T-REx	kidney:	n/a	chr3:159481608-159481617 chr3:159482218-159482227 chr3:159482461-159482482 chr3:159483138-159483147
14	ETS1	chr3:159480855-159481736	A549	lung:	n/a	chr3:159481118-159481128 chr3:159481118-159481129 chr3:159481594-159481607 chr3:159481595-159481611 chr3:159481120-159481129
15	POLR2A	chr3:159478872-159485842	IMR90	lung:	n/a	n/a
16	NR3C1	chr3:159480777-159481745	A549	lung:	n/a	n/a
17	YY1	chr3:159481191-159481728	ECC-1	luminal epithelium:	n/a	chr3:159481510-159481524 chr3:159481396-159481410
18	TCF7L2	chr3:159481469-159481667	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr3:159480551-159481771	Hela-S3	cervix:	n/a	n/a
20	RAD21	chr3:159481396-159481592	Hela-S3	cervix:	n/a	chr3:159481412-159481426
21	POLR2A	chr3:159480747-159483236	MCF-7	breast:	n/a	n/a
22	YY1	chr3:159481052-159481707	HCT-116	colon:	n/a	chr3:159481510-159481524 chr3:159481396-159481410
23	CTCF	chr3:159481380-159481530	GM12867	blood:	n/a	n/a
24	POLR2A	chr3:159480647-159483221	A549	lung:	n/a	n/a
25	MAFK	chr3:159481228-159481654	Hela-S3	cervix:	n/a	n/a
26	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
27	POLR2A	chr3:159480674-159481714	H1-hESC	embryonic stem cell:	n/a	n/a
28	NR3C1	chr3:159480872-159481609	A549	lung:	n/a	n/a
29	JUND	chr3:159481269-159481673	H1-hESC	embryonic stem cell:	n/a	chr3:159481541-159481550
30	POLR2A	chr3:159480668-159482574	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr3:159481429-159482099	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr3:159480666-159482338	HCT-116	colon:	n/a	n/a
33	JUND	chr3:159481203-159481747	A549	lung:	n/a	chr3:159481541-159481550
34	EGR1	chr3:159481362-159481691	H1-hESC	embryonic stem cell:	n/a	chr3:159481542-159481552 chr3:159481631-159481644
35	CTCF	chr3:159481231-159481581	IMR90	lung:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
36	MAX	chr3:159480680-159481761	H1-hESC	embryonic stem cell:	n/a	chr3:159481565-159481574
37	RAD21	chr3:159481216-159482033	SK-N-SH_RA	brain:	n/a	chr3:159481305-159481317 chr3:159481836-159481846 chr3:159481412-159481426
38	SIN3AK20	chr3:159481288-159481642	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMARCC1	chr3:159479275-159481600	Hela-S3	cervix:	n/a	chr3:159479718-159479727
40	SIN3AK20	chr3:159481352-159481740	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr3:159481274-159481567	K562	blood:	n/a	chr3:159481365-159481378 chr3:159481356-159481369
42	SRF	chr3:159481266-159481844	ECC-1	luminal epithelium:	n/a	chr3:159481614-159481624
43	ZNF143	chr3:159480705-159481655	Hela-S3	cervix:	n/a	chr3:159481553-159481571 chr3:159481602-159481620 chr3:159481248-159481266
44	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
45	RAD21	chr3:159481208-159481767	ECC-1	luminal epithelium:	n/a	chr3:159481305-159481317 chr3:159481412-159481426
46	POLR2A	chr3:159480483-159482854	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr3:159480675-159484005	Hela-S3	cervix:	n/a	n/a
48	MAX	chr3:159480629-159482348	ECC-1	luminal epithelium:	n/a	chr3:159481565-159481574
49	CCNT2	chr3:159481406-159481571	K562	blood:	n/a	n/a
50	POLR2A	chr3:159480560-159483811	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20101237..20102018-chr3:159480945..159481897,2	Hela-S3	cervix:
2	chr18:29671926..29672642-chr3:159481391..159482087,2	Hela-S3	cervix:
3	chr3:159481372..159481986-chr6:26123997..26124942,2	Hela-S3	cervix:
4	chr11:62599099..62599815-chr3:159481032..159481725,2	Hela-S3	cervix:
5	chr11:75272966..75273812-chr3:159481024..159481769,2	HCT-116	colon:

Variant related genes	Relation type
IQCJ-SCHIP1	TF binding region
ENSG00000149257	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000265008	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000134758	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000162236	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159480000-159483200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr3:159480400-159483400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr3:159480400-159483800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr3:159480400-159483800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr3:159480400-159483800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr3:159480400-159484200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:159480600-159481600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:159480600-159481600	Bivalent/Poised TSS	Stomach Mucosa	stomach
9	chr3:159480600-159482000	Active TSS	Primary hematopoietic stem cells	blood
10	chr3:159480600-159482000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:159480600-159483200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr3:159480600-159483400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:159480600-159483400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr3:159480600-159483600	Active TSS	Psoas Muscle	Psoas
15	chr3:159480600-159483800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr3:159480600-159483800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:159480600-159483800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:159480600-159484000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:159480600-159485400	Active TSS	Aorta	Aorta
20	chr3:159480800-159481600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:159480800-159481600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
22	chr3:159480800-159481600	Flanking Active TSS	Colonic Mucosa	Colon
23	chr3:159480800-159481600	Flanking Active TSS	Spleen	Spleen
24	chr3:159480800-159481800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr3:159480800-159482000	Bivalent/Poised TSS	Fetal Thymus	thymus
26	chr3:159480800-159482200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:159480800-159483200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:159480800-159483400	Active TSS	Fetal Intestine Large	intestine
29	chr3:159480800-159483600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:159480800-159483600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr3:159480800-159483800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:159480800-159483800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:159480800-159483800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:159480800-159483800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:159480800-159483800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr3:159480800-159483800	Active TSS	Ovary	ovary
37	chr3:159480800-159483800	Active TSS	A549	lung
38	chr3:159480800-159484000	Active TSS	Left Ventricle	heart
39	chr3:159480800-159484600	Active TSS	Colon Smooth Muscle	Colon
40	chr3:159480800-159485000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:159480800-159485000	Active TSS	Fetal Kidney	kidney
42	chr3:159480800-159485200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:159481000-159481600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:159481000-159481600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
45	chr3:159481000-159481600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr3:159481000-159481600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:159481000-159481600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:159481000-159481600	Bivalent/Poised TSS	K562	blood
49	chr3:159481000-159481800	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
50	chr3:159481000-159482000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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