Variant report

Variant	rs537067572
Chromosome Location	chr4:99579026-99579027
allele	A/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	chr4:99579000-99579150	NHDF-neo	bronchial:	n/a	n/a
2	TAF1	chr4:99578638-99579203	H1-neurons	neurons:	n/a	n/a
3	SIN3AK20	chr4:99578459-99579505	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr4:99578453-99579234	U87	brain:	n/a	n/a
5	MAX	chr4:99578600-99580266	ECC-1	luminal epithelium:	n/a	chr4:99580230-99580240
6	POLR2A	chr4:99578607-99580432	PBDE	blood:	n/a	n/a
7	POLR2A	chr4:99578475-99579140	U87	brain:	n/a	n/a
8	MAZ	chr4:99578350-99580808	IMR90	lung:	n/a	chr4:99580230-99580240 chr4:99578572-99578581
9	POLR2A	chr4:99578584-99579301	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr4:99578651-99579062	SK-N-SH	brain:	n/a	n/a
11	RAD21	chr4:99577479-99580600	IMR90	lung:	n/a	n/a
12	CTCF	chr4:99578920-99579070	SK-N-SH_RA	brain:	n/a	n/a
13	MYC	chr4:99578668-99579081	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:99578505-99580475	IMR90	lung:	n/a	n/a
15	RAD21	chr4:99578632-99579297	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr4:99578464-99580441	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr4:99578641-99579075	HCT-116	colon:	n/a	n/a
18	GATA2	chr4:99578225-99579395	SH-SY5Y	brain:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
19	GATA2	chr4:99578404-99579310	HUVEC	blood vessel:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
20	CTCF	chr4:99578920-99579070	HUVEC	blood vessel:	n/a	n/a
21	HA-E2F1	chr4:99578286-99580427	MCF-7	breast:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
22	POLR2A	chr4:99578703-99579041	Gliobla	brain:	n/a	n/a
23	MAX	chr4:99578577-99580319	A549	lung:	n/a	chr4:99580230-99580240
24	E2F6	chr4:99578604-99579876	H1-hESC	embryonic stem cell:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
25	USF2	chr4:99578962-99579389	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTBP2	chr4:99578768-99580714	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr4:99578497-99580630	IMR90	lung:	n/a	n/a
28	CTCF	chr4:99578920-99579070	WERI-Rb-1	eye:	n/a	n/a
29	MXI1	chr4:99576467-99580748	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr4:99578447-99579234	U87	brain:	n/a	n/a
31	E2F6	chr4:99578621-99579087	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:99578566-99580234	H1-hESC	embryonic stem cell:	n/a	n/a
33	GATA3	chr4:99578455-99579162	SK-N-SH	brain:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
34	GATA3	chr4:99578258-99579382	SK-N-SH	brain:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
35	TBP	chr4:99578768-99579105	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr4:99578143-99579364	H1-hESC	embryonic stem cell:	n/a	chr4:99578572-99578581
37	UBTF	chr4:99578964-99580052	K562	blood:	n/a	n/a
38	POLR2A	chr4:99578440-99580324	H1-neurons	neurons:	n/a	n/a
39	RCOR1	chr4:99577675-99581955	IMR90	lung:	n/a	n/a
40	POLR2A	chr4:99578622-99579039	ProgFib	skin:	n/a	n/a
41	MAX	chr4:99578605-99580150	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr4:99579014-99579055	MCF10A-Er-Src	breast:	n/a	n/a
43	SIN3A	chr4:99578902-99580721	H1-hESC	embryonic stem cell:	n/a	chr4:99579506-99579517
44	RAD21	chr4:99578740-99579323	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr4:99578629-99579142	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr4:99579020-99579170	HRE	kidney:	n/a	n/a
47	MAX	chr4:99578489-99580495	SK-N-SH	brain:	n/a	chr4:99580230-99580240 chr4:99578572-99578581
48	TAF1	chr4:99578673-99579100	SK-N-SH	brain:	n/a	n/a
49	ZNF263	chr4:99578581-99580952	HEK293-T-REx	kidney:	n/a	n/a
50	MYC	chr4:99578712-99579294	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99180743..99183219-chr4:99577927..99581407,3	MCF-7	breast:

Variant related genes	Relation type
TSPAN5	TF binding region
ENSG00000260641	TF binding region
ENSG00000214559	Chromatin interaction
ENSG00000138698	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	nsv966532	chr4:99571460-99581225	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3344423	chr4:99578554-99581102	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99576600-99580800	Weak transcription	Hela-S3	cervix
2	chr4:99576800-99580400	Active TSS	NHLF	lung
3	chr4:99577000-99580400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:99577200-99580600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:99577200-99580600	Active TSS	Brain Angular Gyrus	brain
6	chr4:99577200-99580600	Active TSS	NHDF-Ad	bronchial
7	chr4:99577400-99579400	Active TSS	Fetal Brain Male	brain
8	chr4:99577400-99580200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:99577400-99580400	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr4:99577400-99580400	Active TSS	HSMM	muscle
11	chr4:99577400-99580600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr4:99577400-99580800	Active TSS	Ovary	ovary
13	chr4:99577600-99580200	Active TSS	Brain Substantia Nigra	brain
14	chr4:99577600-99580200	Active TSS	NH-A	brain
15	chr4:99577600-99580400	Active TSS	Brain Cingulate Gyrus	brain
16	chr4:99577600-99580400	Active TSS	Brain Hippocampus Middle	brain
17	chr4:99577600-99580600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:99577600-99580600	Active TSS	Fetal Brain Female	brain
19	chr4:99577600-99580800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:99577800-99580200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:99577800-99580400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:99577800-99580400	Active TSS	Muscle Satellite Cultured Cells	--
23	chr4:99577800-99580600	Active TSS	HSMMtube	muscle
24	chr4:99578000-99579400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:99578000-99579400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
26	chr4:99578000-99580000	Active TSS	Fetal Muscle Trunk	muscle
27	chr4:99578000-99580600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:99578000-99580600	Active TSS	Right Atrium	heart
29	chr4:99578000-99580800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:99578000-99581000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:99578200-99579400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr4:99578200-99579400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr4:99578200-99579400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr4:99578200-99579600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr4:99578200-99580200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:99578200-99580200	Active TSS	HMEC	breast
37	chr4:99578200-99580400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:99578200-99580400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:99578200-99580400	Active TSS	Osteobl	bone
40	chr4:99578200-99580600	Active TSS	A549	lung
41	chr4:99578200-99580800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr4:99578200-99581000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr4:99578400-99579200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:99578400-99579200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr4:99578400-99579400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr4:99578400-99579400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr4:99578400-99579400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:99578400-99579400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr4:99578400-99579600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr4:99578400-99580200	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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