Variant report

Variant	rs565439982
Chromosome Location	chr4:99578847-99578848
allele	C/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	NFYB	chr4:99578792-99578999	GM12878	blood:	n/a	chr4:99578857-99578872 chr4:99578857-99578871 chr4:99578857-99578872
2	GATA3	chr4:99578645-99578959	T-47D	breast:	n/a	chr4:99578848-99578856
3	TAF1	chr4:99578638-99579203	H1-neurons	neurons:	n/a	n/a
4	SIN3AK20	chr4:99578459-99579505	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr4:99578625-99579002	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr4:99578730-99578996	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:99578453-99579234	U87	brain:	n/a	n/a
8	MAX	chr4:99578600-99580266	ECC-1	luminal epithelium:	n/a	chr4:99580230-99580240
9	MYC	chr4:99578739-99578946	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr4:99578607-99580432	PBDE	blood:	n/a	n/a
11	POLR2A	chr4:99578475-99579140	U87	brain:	n/a	n/a
12	MAZ	chr4:99578350-99580808	IMR90	lung:	n/a	chr4:99580230-99580240 chr4:99578572-99578581
13	POLR2A	chr4:99578584-99579301	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr4:99578651-99579062	SK-N-SH	brain:	n/a	n/a
15	RAD21	chr4:99577479-99580600	IMR90	lung:	n/a	n/a
16	E2F4	chr4:99578644-99578952	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr4:99578668-99579081	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr4:99578505-99580475	IMR90	lung:	n/a	n/a
19	RAD21	chr4:99578632-99579297	SK-N-SH_RA	brain:	n/a	n/a
20	POLR2A	chr4:99578464-99580441	HUVEC	blood vessel:	n/a	n/a
21	STAT3	chr4:99578846-99579011	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:99578641-99579075	HCT-116	colon:	n/a	n/a
23	GTF2F1	chr4:99578833-99578952	H1-hESC	embryonic stem cell:	n/a	n/a
24	GATA2	chr4:99578225-99579395	SH-SY5Y	brain:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
25	GATA2	chr4:99578404-99579310	HUVEC	blood vessel:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
26	HA-E2F1	chr4:99578286-99580427	MCF-7	breast:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
27	MYC	chr4:99578800-99578847	MCF-7	breast:	n/a	n/a
28	POLR2A	chr4:99578703-99579041	Gliobla	brain:	n/a	n/a
29	MAX	chr4:99578577-99580319	A549	lung:	n/a	chr4:99580230-99580240
30	E2F6	chr4:99578604-99579876	H1-hESC	embryonic stem cell:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
31	CTBP2	chr4:99578768-99580714	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr4:99578497-99580630	IMR90	lung:	n/a	n/a
33	CTCF	chr4:99578800-99578950	HFF	foreskin:	n/a	n/a
34	POLR2A	chr4:99578571-99578951	PANC-1	pancreas:	n/a	n/a
35	MXI1	chr4:99576467-99580748	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr4:99578447-99579234	U87	brain:	n/a	n/a
37	E2F6	chr4:99578621-99579087	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr4:99578566-99580234	H1-hESC	embryonic stem cell:	n/a	n/a
39	GATA3	chr4:99578455-99579162	SK-N-SH	brain:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
40	GATA3	chr4:99578258-99579382	SK-N-SH	brain:	n/a	chr4:99579016-99579025 chr4:99578848-99578856 chr4:99579012-99579023 chr4:99579122-99579143
41	TBP	chr4:99578768-99579105	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr4:99578143-99579364	H1-hESC	embryonic stem cell:	n/a	chr4:99578572-99578581
43	POLR2A	chr4:99578795-99578904	MCF-7	breast:	n/a	n/a
44	POLR2A	chr4:99578440-99580324	H1-neurons	neurons:	n/a	n/a
45	RCOR1	chr4:99577675-99581955	IMR90	lung:	n/a	n/a
46	POLR2A	chr4:99578622-99579039	ProgFib	skin:	n/a	n/a
47	MAX	chr4:99578605-99580150	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr4:99578820-99578970	GM12874	blood:	n/a	n/a
49	RAD21	chr4:99578740-99579323	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr4:99578629-99579142	SK-N-SH_RA	brain:	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
ENSG00000138698	Chromatin interaction
ENSG00000214559	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	chr4:99578000-99579000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr4:99578000-99579000	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr4:99578000-99579400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:99578000-99579400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr4:99578000-99580000	Active TSS	Fetal Muscle Trunk	muscle
29	chr4:99578000-99580600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:99578000-99580600	Active TSS	Right Atrium	heart
31	chr4:99578000-99580800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:99578000-99581000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr4:99578200-99579000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:99578200-99579000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr4:99578200-99579000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:99578200-99579000	Flanking Active TSS	Fetal Thymus	thymus
37	chr4:99578200-99579400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr4:99578200-99579400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
39	chr4:99578200-99579400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr4:99578200-99579600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr4:99578200-99580200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:99578200-99580200	Active TSS	HMEC	breast
43	chr4:99578200-99580400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:99578200-99580400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:99578200-99580400	Active TSS	Osteobl	bone
46	chr4:99578200-99580600	Active TSS	A549	lung
47	chr4:99578200-99580800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr4:99578200-99581000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
49	chr4:99578400-99579000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr4:99578400-99579000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose

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