Variant report

Variant	rs571714237
Chromosome Location	chr4:143326403-143326404
allele	A/C
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	USF1	chr4:143326399-143326924	ECC-1	luminal epithelium:	n/a	chr4:143326645-143326654 chr4:143326646-143326655 chr4:143326646-143326655 chr4:143326644-143326655
2	CEBPB	chr4:143326021-143327054	IMR90	lung:	n/a	chr4:143326150-143326163
3	POLR2A	chr4:143326067-143327291	HCT-116	colon:	n/a	n/a
4	MYC	chr4:143326043-143327130	MCF10A-Er-Src	breast:	n/a	chr4:143326645-143326656 chr4:143326646-143326655 chr4:143326645-143326656 chr4:143326644-143326652
5	CHD2	chr4:143326300-143326980	GM12878	blood:	n/a	n/a
6	EP300	chr4:143326339-143327167	GM12878	blood:	n/a	chr4:143326808-143326821
7	IKZF1	chr4:143326349-143327070	GM12878	blood:	n/a	n/a
8	CEBPB	chr4:143326049-143326472	A549	lung:	n/a	chr4:143326150-143326163
9	POLR2A	chr4:143324039-143328578	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr4:143326118-143327249	ECC-1	luminal epithelium:	n/a	chr4:143326645-143326656 chr4:143326646-143326655 chr4:143326645-143326656 chr4:143326644-143326652
11	TBP	chr4:143326391-143326843	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:143326103-143326976	ProgFib	skin:	n/a	n/a
13	POLR2A	chr4:143326007-143326920	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF12	chr4:143325261-143327706	A549	lung:	n/a	chr4:143327642-143327651
15	EBF1	chr4:143326248-143327165	GM12878	blood:	n/a	chr4:143326580-143326591 chr4:143327120-143327130
16	MAX	chr4:143326312-143327292	NB4	blood:	n/a	chr4:143326645-143326656 chr4:143326646-143326655 chr4:143326645-143326656 chr4:143326644-143326652
17	CTCF	chr4:143326400-143326550	HCPEpiC	choroid plexus:	n/a	n/a
18	YY1	chr4:143326224-143326845	HCT-116	colon:	n/a	chr4:143326261-143326272
19	USF1	chr4:143326216-143327108	HCT-116	colon:	n/a	chr4:143326645-143326654 chr4:143326646-143326655 chr4:143326646-143326655 chr4:143326644-143326655
20	MXI1	chr4:143326332-143326920	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:143326273-143326914	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr4:143326223-143326849	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr4:143326219-143327162	HCT-116	colon:	n/a	n/a
24	MYC	chr4:143326019-143327845	MCF10A-Er-Src	breast:	n/a	chr4:143326645-143326656 chr4:143326646-143326655 chr4:143326645-143326656 chr4:143326644-143326652
25	SPI1	chr4:143326344-143327236	HL-60	blood:	n/a	chr4:143327016-143327025 chr4:143326608-143326615 chr4:143327017-143327024
26	POLR2A	chr4:143326286-143326416	A549	lung:	n/a	n/a
27	MXI1	chr4:143325963-143327388	IMR90	lung:	n/a	n/a
28	MAX	chr4:143326066-143327108	HCT-116	colon:	n/a	chr4:143326645-143326656 chr4:143326646-143326655 chr4:143326645-143326656 chr4:143326644-143326652
29	CREB1	chr4:143326290-143326562	A549	lung:	n/a	n/a
30	CEBPB	chr4:143325986-143326607	ECC-1	luminal epithelium:	n/a	chr4:143326150-143326163
31	MAX	chr4:143326073-143327069	A549	lung:	n/a	chr4:143326645-143326656 chr4:143326646-143326655 chr4:143326645-143326656 chr4:143326644-143326652
32	POLR2A	chr4:143326289-143326434	Gliobla	brain:	n/a	n/a
33	SP1	chr4:143326110-143326510	A549	lung:	n/a	chr4:143326266-143326276 chr4:143326260-143326269 chr4:143326259-143326271 chr4:143326261-143326270 chr4:143326266-143326275
34	CHD1	chr4:143326321-143326848	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:143326278-143327022	IMR90	lung:	n/a	n/a
36	EBF1	chr4:143326398-143326751	GM12878	blood:	n/a	chr4:143326580-143326591
37	FOS	chr4:143326078-143326893	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr4:143326242-143327029	U87	brain:	n/a	n/a
39	KAP1	chr4:143326346-143327707	U2OS	brain:	n/a	n/a
40	EP300	chr4:143326120-143327774	ECC-1	luminal epithelium:	n/a	chr4:143326808-143326821
41	USF1	chr4:143326324-143327009	ECC-1	luminal epithelium:	n/a	chr4:143326645-143326654 chr4:143326646-143326655 chr4:143326646-143326655 chr4:143326644-143326655
42	MAX	chr4:143326207-143326979	A549	lung:	n/a	chr4:143326645-143326656 chr4:143326646-143326655 chr4:143326645-143326656 chr4:143326644-143326652
43	POLR2A	chr4:143326205-143326907	ECC-1	luminal epithelium:	n/a	n/a
44	GATA3	chr4:143326156-143326486	T-47D	breast:	n/a	n/a
45	POLR2A	chr4:143326290-143327010	HL-60	blood:	n/a	n/a
46	POLR2A	chr4:143326276-143326796	U87	brain:	n/a	n/a
47	TEAD4	chr4:143326102-143327900	ECC-1	luminal epithelium:	n/a	n/a
48	USF1	chr4:143326343-143326873	A549	lung:	n/a	chr4:143326645-143326654 chr4:143326646-143326655 chr4:143326646-143326655 chr4:143326644-143326655
49	MAX	chr4:143326076-143327026	ECC-1	luminal epithelium:	n/a	chr4:143326645-143326656 chr4:143326646-143326655 chr4:143326645-143326656 chr4:143326644-143326652
50	CEBPB	chr4:143325934-143326453	A549	lung:	n/a	chr4:143326150-143326163

Variant related genes	Relation type
INPP4B	TF binding region

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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv968011	chr4:143325315-143333139	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143320600-143326600	Active TSS	Primary T cells fromperipheralblood	blood
2	chr4:143320800-143328000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:143321000-143326800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:143321400-143326600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:143321400-143326600	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr4:143322200-143326600	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr4:143322200-143326600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr4:143322600-143326600	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr4:143323200-143326600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:143323400-143327200	Weak transcription	Small Intestine	intestine
11	chr4:143323600-143326600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:143323600-143326600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:143323600-143326800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:143323600-143326800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:143323800-143326600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr4:143323800-143326800	Active TSS	NHLF	lung
17	chr4:143323800-143327000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:143324000-143326600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:143324000-143326800	Active TSS	Psoas Muscle	Psoas
20	chr4:143324200-143326600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:143324400-143326600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:143324400-143326600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr4:143324400-143326600	Active TSS	HMEC	breast
24	chr4:143324400-143326600	Active TSS	HSMM	muscle
25	chr4:143324400-143326600	Active TSS	NHEK	skin
26	chr4:143324400-143326800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:143324400-143326800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:143324800-143326600	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr4:143324800-143326600	Active TSS	HSMMtube	muscle
30	chr4:143324800-143326800	Active TSS	A549	lung
31	chr4:143324800-143326800	Active TSS	NHDF-Ad	bronchial
32	chr4:143324800-143327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:143325000-143326600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:143325000-143326600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr4:143325000-143326600	Active TSS	Muscle Satellite Cultured Cells	--
36	chr4:143325200-143326600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:143325200-143326600	Active TSS	Duodenum Mucosa	Duodenum
38	chr4:143325200-143326600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr4:143325200-143326600	Active TSS	NH-A	brain
40	chr4:143325200-143326600	Active TSS	Osteobl	bone
41	chr4:143325200-143326800	Active TSS	Stomach Smooth Muscle	stomach
42	chr4:143325200-143327000	Active TSS	Rectal Smooth Muscle	rectum
43	chr4:143325400-143326600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:143325400-143326600	Active TSS	Adipose Nuclei	Adipose
45	chr4:143325400-143326600	Active TSS	Right Atrium	heart
46	chr4:143325400-143326800	Active TSS	Brain Hippocampus Middle	brain
47	chr4:143325400-143327000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr4:143325400-143327600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr4:143325600-143326600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr4:143325600-143326600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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