Variant report

Variant	rs566895533
Chromosome Location	chr5:179084974-179084975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:179084816-179085148	A549	lung:	n/a	n/a
2	POLR2A	chr5:179084595-179085452	K562	blood:	n/a	n/a
3	NFIC	chr5:179084878-179085218	GM12878	blood:	n/a	n/a
4	CTCF	chr5:179084724-179085134	GM19239	blood:	n/a	n/a
5	CTCF	chr5:179084852-179085206	Pancreas_OC	pancreas:	n/a	n/a
6	TAF1	chr5:179084391-179085223	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:179084425-179085329	A549	lung:	n/a	n/a
8	TCF12	chr5:179084806-179085122	HepG2	liver:	n/a	n/a
9	TAF1	chr5:179084878-179085329	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr5:179084841-179085132	ProgFib	skin:	n/a	n/a
11	POLR2A	chr5:179084883-179085424	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr5:179084738-179085273	K562	blood:	n/a	n/a
13	BCL11A	chr5:179084946-179085204	GM12878	blood:	n/a	chr5:179085108-179085117
14	TCF3	chr5:179084766-179085207	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:179084824-179085374	GM12891	blood:	n/a	n/a
16	YY1	chr5:179084515-179085175	A549	lung:	n/a	chr5:179084547-179084558
17	POLR2A	chr5:179084631-179085421	MCF-7	breast:	n/a	n/a
18	SIN3AK20	chr5:179084827-179085189	HepG2	liver:	n/a	n/a
19	POLR2A	chr5:179084233-179085777	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr5:179084331-179085339	HepG2	liver:	n/a	n/a
21	PAX5	chr5:179084456-179085470	GM12878	blood:	n/a	chr5:179084737-179084747 chr5:179084730-179084739
22	MYC	chr5:179084672-179085413	HepG2	liver:	n/a	n/a
23	CTCF	chr5:179084836-179085162	GM13977	blood:	n/a	n/a
24	TEAD4	chr5:179084808-179085170	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr5:179084858-179085122	MCF-7	breast:	n/a	n/a
26	POU2F2	chr5:179084350-179085493	GM12891	blood:	n/a	n/a
27	CTCF	chr5:179084785-179085132	HUVEC	blood vessel:	n/a	n/a
28	PAX5	chr5:179084449-179085485	GM12878	blood:	n/a	chr5:179084737-179084747 chr5:179084730-179084739
29	CTCF	chr5:179084810-179085373	GM12891	blood:	n/a	n/a
30	FOXP2	chr5:179084833-179085173	SK-N-MC	brain:	n/a	n/a
31	CTCF	chr5:179084758-179085192	A549	lung:	n/a	n/a
32	HEY1	chr5:179084508-179085315	K562	blood:	n/a	n/a
33	RXRA	chr5:179084505-179085214	HepG2	liver:	n/a	n/a
34	IRF4	chr5:179084713-179085174	GM12878	blood:	n/a	n/a
35	CTCF	chr5:179084848-179085208	Kidney_OC	kidney:	n/a	n/a
36	USF1	chr5:179084831-179085030	HepG2	liver:	n/a	n/a
37	CTCF	chr5:179084828-179085152	Gliobla	brain:	n/a	n/a
38	PAX5	chr5:179084568-179085433	GM12878	blood:	n/a	chr5:179084737-179084747 chr5:179084730-179084739
39	POLR2A	chr5:179084954-179085350	SK-N-SH	brain:	n/a	n/a
40	CTCF	chr5:179084728-179085137	MCF-7	breast:	n/a	n/a
41	POLR2A	chr5:179084528-179085170	HepG2	liver:	n/a	n/a
42	JUND	chr5:179084900-179085169	HepG2	liver:	n/a	n/a
43	POLR2A	chr5:179084801-179085608	SK-N-MC	brain:	n/a	n/a
44	SPI1	chr5:179084356-179084981	GM12891	blood:	n/a	n/a
45	CTCF	chr5:179084842-179085261	Lung_OC	lung:	n/a	n/a
46	FOSL2	chr5:179084616-179085510	HepG2	liver:	n/a	n/a
47	NR2F2	chr5:179084324-179085786	K562	blood:	n/a	n/a
48	POLR2A	chr5:179084340-179085218	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr5:179084595-179085181	GM12892	blood:	n/a	n/a
50	POLR2A	chr5:179084700-179085330	MCF-7	breast:	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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC136604.1-1	chr5:179084763-179085098	XLOC_004677

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:46 , 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	chr5:179084600-179085000	Flanking Active TSS	Dnd41	blood
5	chr5:179084600-179085400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:179084600-179085400	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr5:179084600-179085400	Enhancers	HMEC	breast
8	chr5:179084600-179085600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:179084600-179085600	Active TSS	Duodenum Mucosa	Duodenum
10	chr5:179084600-179085600	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr5:179084600-179085600	Active TSS	HepG2	liver
12	chr5:179084600-179086000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:179084600-179086200	Active TSS	Fetal Brain Female	brain
14	chr5:179084800-179085000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:179084800-179085400	Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr5:179084800-179085400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:179084800-179085400	Active TSS	Adipose Nuclei	Adipose
18	chr5:179084800-179085400	Active TSS	Liver	Liver
19	chr5:179084800-179085400	Active TSS	Brain Anterior Caudate	brain
20	chr5:179084800-179085400	Active TSS	Fetal Muscle Leg	muscle
21	chr5:179084800-179085400	Active TSS	Psoas Muscle	Psoas
22	chr5:179084800-179085400	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:179084800-179085600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:179084800-179085600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:179084800-179085600	Active TSS	Colonic Mucosa	Colon
26	chr5:179084800-179085600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr5:179084800-179085600	Active TSS	Fetal Stomach	stomach
28	chr5:179084800-179085600	Active TSS	Left Ventricle	heart
29	chr5:179084800-179085600	Active TSS	A549	lung
30	chr5:179084800-179085800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr5:179084800-179085800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr5:179084800-179085800	Active TSS	Brain Substantia Nigra	brain
33	chr5:179084800-179085800	Active TSS	Colon Smooth Muscle	Colon
34	chr5:179084800-179085800	Active TSS	NHDF-Ad	bronchial
35	chr5:179084800-179086000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr5:179084800-179086000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:179084800-179086000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:179084800-179086000	Active TSS	Pancreas	Pancrea
39	chr5:179084800-179086000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:179084800-179086000	Active TSS	Rectal Smooth Muscle	rectum
41	chr5:179084800-179086000	Active TSS	Right Atrium	heart
42	chr5:179084800-179086000	Active TSS	Stomach Smooth Muscle	stomach
43	chr5:179084800-179086000	Active TSS	Osteobl	bone
44	chr5:179084800-179086200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:179084800-179086200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:179084800-179086400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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