Variant report

Variant	rs530111424
Chromosome Location	chr3:159481134-159481135
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	SMARCB1	chr3:159480566-159483718	Hela-S3	cervix:	n/a	chr3:159483592-159483601
2	EP300	chr3:159480674-159482038	A549	lung:	n/a	chr3:159481639-159481652 chr3:159480947-159480956
3	POLR2A	chr3:159480763-159481717	U87	brain:	n/a	n/a
4	POLR2A	chr3:159480562-159484035	PFSK-1	brain:	n/a	n/a
5	CEBPB	chr3:159480064-159482341	Hela-S3	cervix:	n/a	n/a
6	EP300	chr3:159479975-159481767	A549	lung:	n/a	chr3:159481639-159481652 chr3:159480947-159480956
7	MAX	chr3:159480702-159483613	MCF-7	breast:	n/a	chr3:159481565-159481574 chr3:159482995-159483005 chr3:159483043-159483053
8	TAF1	chr3:159480702-159482392	A549	lung:	n/a	n/a
9	SIN3AK20	chr3:159480781-159481583	A549	lung:	n/a	n/a
10	ZNF263	chr3:159480693-159484031	HEK293-T-REx	kidney:	n/a	chr3:159481608-159481617 chr3:159482218-159482227 chr3:159482461-159482482 chr3:159483138-159483147
11	ETS1	chr3:159480855-159481736	A549	lung:	n/a	chr3:159481118-159481128 chr3:159481118-159481129 chr3:159481594-159481607 chr3:159481595-159481611 chr3:159481120-159481129
12	POLR2A	chr3:159478872-159485842	IMR90	lung:	n/a	n/a
13	SIN3AK20	chr3:159480785-159481226	PFSK-1	brain:	n/a	n/a
14	NR3C1	chr3:159480777-159481745	A549	lung:	n/a	n/a
15	POLR2A	chr3:159480551-159481771	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr3:159480747-159483236	MCF-7	breast:	n/a	n/a
17	CTCF	chr3:159481020-159481170	AG04449	skin:	n/a	n/a
18	YY1	chr3:159481052-159481707	HCT-116	colon:	n/a	chr3:159481510-159481524 chr3:159481396-159481410
19	CHD1	chr3:159480981-159481375	H1-hESC	embryonic stem cell:	n/a	chr3:159480992-159481002
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	ZNF143	chr3:159480705-159481655	Hela-S3	cervix:	n/a	chr3:159481553-159481571 chr3:159481602-159481620 chr3:159481248-159481266
29	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
30	POLR2A	chr3:159480483-159482854	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr3:159480675-159484005	Hela-S3	cervix:	n/a	n/a
32	MAX	chr3:159480629-159482348	ECC-1	luminal epithelium:	n/a	chr3:159481565-159481574
33	FOSL2	chr3:159480686-159481263	A549	lung:	n/a	n/a
34	POLR2A	chr3:159480560-159483811	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr3:159480717-159481722	A549	lung:	n/a	n/a
36	POLR2A	chr3:159480579-159482427	HCT-116	colon:	n/a	n/a
37	TEAD4	chr3:159480663-159481736	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr3:159480606-159482497	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr3:159480081-159481644	Hela-S3	cervix:	n/a	n/a
40	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
41	USF2	chr3:159479997-159481135	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr3:159480733-159481241	A549	lung:	n/a	n/a
43	BRCA1	chr3:159479495-159481576	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr3:159480618-159481756	A549	lung:	n/a	n/a
45	POLR2A	chr3:159479069-159484734	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr3:159480585-159482561	A549	lung:	n/a	chr3:159481565-159481574
47	TAF1	chr3:159480619-159482529	H1-hESC	embryonic stem cell:	n/a	n/a
48	MXI1	chr3:159480603-159484814	IMR90	lung:	n/a	n/a
49	MAX	chr3:159480703-159481651	A549	lung:	n/a	chr3:159481565-159481574
50	GATA3	chr3:159480853-159481710	T-47D	breast:	n/a	chr3:159481209-159481217

No.	Distal block	Cell Line	Cell type
1	chr3:154041649..154042465-chr3:159480471..159481388,2	Hela-S3	cervix:
2	chr21:36261083..36261587-chr3:159480643..159481445,2	Hela-S3	cervix:
3	chr2:20101237..20102018-chr3:159480945..159481897,2	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
ENSG00000183891	Chromatin interaction
ENSG00000174953	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000256690	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159479600-159481200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:159479600-159481200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:159479600-159481200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr3:159479600-159481200	Flanking Active TSS	HSMM	muscle
5	chr3:159479600-159481200	Flanking Active TSS	NHEK	skin
6	chr3:159479600-159481400	Flanking Active TSS	HMEC	breast
7	chr3:159479800-159481200	Flanking Active TSS	HSMMtube	muscle
8	chr3:159480000-159481400	Flanking Active TSS	NH-A	brain
9	chr3:159480000-159483200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr3:159480200-159481200	Flanking Active TSS	Hela-S3	cervix
11	chr3:159480400-159481200	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr3:159480400-159481400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr3:159480400-159483400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr3:159480400-159483800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr3:159480400-159483800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr3:159480400-159483800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:159480400-159484200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:159480600-159481200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:159480600-159481200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:159480600-159481200	Flanking Active TSS	Liver	Liver
21	chr3:159480600-159481200	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr3:159480600-159481200	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr3:159480600-159481200	Flanking Active TSS	Fetal Lung	lung
24	chr3:159480600-159481200	Flanking Active TSS	Placenta	Placenta
25	chr3:159480600-159481200	Flanking Active TSS	NHLF	lung
26	chr3:159480600-159481400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:159480600-159481400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr3:159480600-159481400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr3:159480600-159481400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr3:159480600-159481400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr3:159480600-159481600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:159480600-159481600	Bivalent/Poised TSS	Stomach Mucosa	stomach
33	chr3:159480600-159482000	Active TSS	Primary hematopoietic stem cells	blood
34	chr3:159480600-159482000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:159480600-159483200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr3:159480600-159483400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr3:159480600-159483400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr3:159480600-159483600	Active TSS	Psoas Muscle	Psoas
39	chr3:159480600-159483800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr3:159480600-159483800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:159480600-159483800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr3:159480600-159484000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:159480600-159485400	Active TSS	Aorta	Aorta
44	chr3:159480800-159481200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
45	chr3:159480800-159481200	Flanking Active TSS	Pancreas	Pancrea
46	chr3:159480800-159481200	Flanking Bivalent TSS/Enh	Thymus	Thymus
47	chr3:159480800-159481400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:159480800-159481400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr3:159480800-159481400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr3:159480800-159481400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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