Variant report

Variant	rs572977499
Chromosome Location	chr5:179084655-179084656
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:179084640-179084790	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:179084595-179085452	K562	blood:	n/a	n/a
3	TAF1	chr5:179084391-179085223	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:179084425-179085329	A549	lung:	n/a	n/a
5	MYC	chr5:179084422-179084670	HepG2	liver:	n/a	n/a
6	YY1	chr5:179084515-179085175	A549	lung:	n/a	chr5:179084547-179084558
7	POLR2A	chr5:179084631-179085421	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:179084233-179085777	H1-hESC	embryonic stem cell:	n/a	n/a
9	SPI1	chr5:179084528-179084896	K562	blood:	n/a	n/a
10	SPI1	chr5:179084606-179084830	GM12878	blood:	n/a	n/a
11	TAF1	chr5:179084331-179085339	HepG2	liver:	n/a	n/a
12	PAX5	chr5:179084456-179085470	GM12878	blood:	n/a	chr5:179084737-179084747 chr5:179084730-179084739
13	POU2F2	chr5:179084350-179085493	GM12891	blood:	n/a	n/a
14	SPI1	chr5:179084580-179084869	K562	blood:	n/a	n/a
15	PAX5	chr5:179084449-179085485	GM12878	blood:	n/a	chr5:179084737-179084747 chr5:179084730-179084739
16	HEY1	chr5:179084508-179085315	K562	blood:	n/a	n/a
17	RXRA	chr5:179084505-179085214	HepG2	liver:	n/a	n/a
18	PAX5	chr5:179084568-179085433	GM12878	blood:	n/a	chr5:179084737-179084747 chr5:179084730-179084739
19	POLR2A	chr5:179084528-179085170	HepG2	liver:	n/a	n/a
20	SPI1	chr5:179084356-179084981	GM12891	blood:	n/a	n/a
21	FOSL2	chr5:179084616-179085510	HepG2	liver:	n/a	n/a
22	NR2F2	chr5:179084324-179085786	K562	blood:	n/a	n/a
23	CTCF	chr5:179084576-179084754	GM12891	blood:	n/a	n/a
24	SPI1	chr5:179084544-179084943	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:179084340-179085218	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr5:179084595-179085181	GM12892	blood:	n/a	n/a
27	GATA2	chr5:179084515-179085191	K562	blood:	n/a	n/a
28	POLR2A	chr5:179084477-179085449	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:179084335-179085503	GM12892	blood:	n/a	n/a
30	POLR2A	chr5:179084359-179085401	HepG2	liver:	n/a	n/a
31	CBX3	chr5:179084502-179085318	K562	blood:	n/a	n/a
32	POLR2A	chr5:179084401-179085391	A549	lung:	n/a	n/a
33	POLR2A	chr5:179084337-179085568	GM12892	blood:	n/a	n/a
34	MYC	chr5:179084645-179084665	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr5:179084335-179085542	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr5:179084609-179084658	GM12878	blood:	n/a	n/a
37	POLR2A	chr5:179084593-179085392	PANC-1	pancreas:	n/a	n/a
38	CTCF	chr5:179084640-179084790	HPAF	blood vessel:	n/a	n/a
39	NR2F2	chr5:179084504-179085298	K562	blood:	n/a	n/a
40	POLR2A	chr5:179084384-179085486	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:179084620-179085040	HepG2	liver:	n/a	n/a
42	POLR2A	chr5:179084574-179085132	A549	lung:	n/a	n/a
43	POLR2A	chr5:179084425-179085363	A549	lung:	n/a	n/a
44	IRF4	chr5:179084436-179085283	GM12878	blood:	n/a	n/a
45	CTCF	chr5:179084647-179084742	GM10248	blood:	n/a	n/a
46	YY1	chr5:179084651-179084873	HepG2	liver:	n/a	n/a
47	CTCF	chr5:179084640-179084790	GM06990	blood:	n/a	n/a
48	GABPA	chr5:179084649-179084863	HepG2	liver:	n/a	n/a
49	POLR2A	chr5:179084404-179085544	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr5:179084631-179085427	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179047959..179050192-chr5:179084037..179087067,3	K562	blood:
2	chr5:179048487..179050192-chr5:179084037..179087067,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250999	TF binding region
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	nsv1033352	chr5:179056475-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1021275	chr5:179056475-179104588	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1022780	chr5:179061394-179086482	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1017006	chr5:179064433-179086482	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1031352	chr5:179082461-179104588	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv10786	chr5:179083976-179084928	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179052200-179085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179078200-179085400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:179078400-179085400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:179084600-179084800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:179084600-179084800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:179084600-179085000	Flanking Active TSS	Dnd41	blood
7	chr5:179084600-179085400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:179084600-179085400	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr5:179084600-179085400	Enhancers	HMEC	breast
10	chr5:179084600-179085600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:179084600-179085600	Active TSS	Duodenum Mucosa	Duodenum
12	chr5:179084600-179085600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr5:179084600-179085600	Active TSS	HepG2	liver
14	chr5:179084600-179086000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:179084600-179086200	Active TSS	Fetal Brain Female	brain

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