Variant report

Variant	rs561682652
Chromosome Location	chr4:99579570-99579571
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	E2F6	chr4:99579548-99579948	A549	lung:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
2	MAX	chr4:99579186-99580228	GM12878	blood:	n/a	n/a
3	CHD1	chr4:99579139-99579727	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:99579405-99580201	HUVEC	blood vessel:	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	chr4:99579505-99580251	PANC-1	pancreas:	n/a	n/a
8	MAZ	chr4:99578350-99580808	IMR90	lung:	n/a	chr4:99580230-99580240 chr4:99578572-99578581
9	RAD21	chr4:99577479-99580600	IMR90	lung:	n/a	n/a
10	POLR2A	chr4:99579476-99580179	HEK293	kidney:	n/a	n/a
11	E2F6	chr4:99579314-99579939	K562	blood:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
12	BACH1	chr4:99579570-99579588	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:99579435-99580478	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:99579543-99579773	PANC-1	pancreas:	n/a	n/a
15	MAX	chr4:99579303-99580099	HepG2	liver:	n/a	n/a
16	POLR2A	chr4:99578505-99580475	IMR90	lung:	n/a	n/a
17	POLR2A	chr4:99579511-99580200	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr4:99578464-99580441	HUVEC	blood vessel:	n/a	n/a
19	E2F6	chr4:99579378-99580006	K562	blood:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
20	RAD21	chr4:99579489-99580637	SK-N-SH_RA	brain:	n/a	n/a
21	TCF7L2	chr4:99579504-99580470	HCT-116	colon:	n/a	n/a
22	HA-E2F1	chr4:99578286-99580427	MCF-7	breast:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
23	HMGN3	chr4:99579464-99580074	K562	blood:	n/a	n/a
24	MAX	chr4:99578577-99580319	A549	lung:	n/a	chr4:99580230-99580240
25	E2F6	chr4:99578604-99579876	H1-hESC	embryonic stem cell:	n/a	chr4:99579866-99579875 chr4:99579557-99579572
26	CTBP2	chr4:99578768-99580714	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr4:99579562-99579825	MCF10A-Er-Src	breast:	n/a	n/a
28	MXI1	chr4:99578497-99580630	IMR90	lung:	n/a	n/a
29	RAD21	chr4:99579359-99580713	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr4:99579407-99580043	K562	blood:	n/a	n/a
31	TAF1	chr4:99579415-99579946	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr4:99579362-99579830	H1-hESC	embryonic stem cell:	n/a	n/a
33	MXI1	chr4:99576467-99580748	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr4:99579544-99580258	GM18951	blood:	n/a	n/a
35	SIN3AK20	chr4:99579509-99580032	PANC-1	pancreas:	n/a	n/a
36	POLR2A	chr4:99578566-99580234	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr4:99579444-99580314	Gliobla	brain:	n/a	n/a
38	POLR2A	chr4:99579487-99580227	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr4:99579548-99580157	A549	lung:	n/a	n/a
40	POLR2A	chr4:99579498-99580286	HCT-116	colon:	n/a	n/a
41	UBTF	chr4:99578964-99580052	K562	blood:	n/a	n/a
42	CCNT2	chr4:99579391-99580028	K562	blood:	n/a	chr4:99579968-99579977
43	POLR2A	chr4:99579551-99580262	HUVEC	blood vessel:	n/a	n/a
44	TBP	chr4:99579361-99580624	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr4:99578440-99580324	H1-neurons	neurons:	n/a	n/a
46	RCOR1	chr4:99577675-99581955	IMR90	lung:	n/a	n/a
47	POLR2A	chr4:99579530-99579746	U87	brain:	n/a	n/a
48	MAX	chr4:99578605-99580150	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr4:99579509-99580068	MCF-7	breast:	n/a	n/a
50	SIN3A	chr4:99578902-99580721	H1-hESC	embryonic stem cell:	n/a	chr4:99579506-99579517

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99180743..99183219-chr4:99577927..99581407,3	MCF-7	breast:
2	chr4:99181647..99184072-chr4:99579310..99582613,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260641	TF binding region
TSPAN5	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	chr4:99577400-99580200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:99577400-99580400	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr4:99577400-99580400	Active TSS	HSMM	muscle
10	chr4:99577400-99580600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr4:99577400-99580800	Active TSS	Ovary	ovary
12	chr4:99577600-99580200	Active TSS	Brain Substantia Nigra	brain
13	chr4:99577600-99580200	Active TSS	NH-A	brain
14	chr4:99577600-99580400	Active TSS	Brain Cingulate Gyrus	brain
15	chr4:99577600-99580400	Active TSS	Brain Hippocampus Middle	brain
16	chr4:99577600-99580600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:99577600-99580600	Active TSS	Fetal Brain Female	brain
18	chr4:99577600-99580800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:99577800-99580200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:99577800-99580400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:99577800-99580400	Active TSS	Muscle Satellite Cultured Cells	--
22	chr4:99577800-99580600	Active TSS	HSMMtube	muscle
23	chr4:99578000-99580000	Active TSS	Fetal Muscle Trunk	muscle
24	chr4:99578000-99580600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:99578000-99580600	Active TSS	Right Atrium	heart
26	chr4:99578000-99580800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr4:99578000-99581000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr4:99578200-99579600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr4:99578200-99580200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:99578200-99580200	Active TSS	HMEC	breast
31	chr4:99578200-99580400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:99578200-99580400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:99578200-99580400	Active TSS	Osteobl	bone
34	chr4:99578200-99580600	Active TSS	A549	lung
35	chr4:99578200-99580800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr4:99578200-99581000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr4:99578400-99579600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr4:99578400-99580200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr4:99578400-99580200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:99578400-99580200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:99578400-99580200	Active TSS	Fetal Lung	lung
42	chr4:99578400-99580200	Active TSS	NHEK	skin
43	chr4:99578400-99580400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr4:99578400-99580400	Active TSS	Fetal Kidney	kidney
45	chr4:99578400-99580600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:99578400-99580600	Active TSS	Spleen	Spleen
47	chr4:99578400-99580800	Active TSS	Aorta	Aorta
48	chr4:99578600-99579600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:99578600-99580000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:99578600-99580200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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