Variant report

Variant	rs77728784
Chromosome Location	chr5:179085160-179085161
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179084595-179085452	K562	blood:	n/a	n/a
2	NFIC	chr5:179084878-179085218	GM12878	blood:	n/a	n/a
3	CTCF	chr5:179084852-179085206	Pancreas_OC	pancreas:	n/a	n/a
4	MYC	chr5:179085045-179085193	Hela-S3	cervix:	n/a	n/a
5	TAF1	chr5:179084391-179085223	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:179084425-179085329	A549	lung:	n/a	n/a
7	TAF1	chr5:179084878-179085329	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:179084883-179085424	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr5:179084738-179085273	K562	blood:	n/a	n/a
10	BCL11A	chr5:179084946-179085204	GM12878	blood:	n/a	chr5:179085108-179085117
11	TCF3	chr5:179084766-179085207	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:179084824-179085374	GM12891	blood:	n/a	n/a
13	YY1	chr5:179084515-179085175	A549	lung:	n/a	chr5:179084547-179084558
14	POLR2A	chr5:179084631-179085421	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr5:179084827-179085189	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:179084233-179085777	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr5:179084331-179085339	HepG2	liver:	n/a	n/a
18	PAX5	chr5:179084456-179085470	GM12878	blood:	n/a	chr5:179084737-179084747 chr5:179084730-179084739
19	MYC	chr5:179084672-179085413	HepG2	liver:	n/a	n/a
20	MYC	chr5:179085069-179085208	MCF-7	breast:	n/a	n/a
21	CTCF	chr5:179084836-179085162	GM13977	blood:	n/a	n/a
22	TEAD4	chr5:179084808-179085170	H1-hESC	embryonic stem cell:	n/a	n/a
23	POU2F2	chr5:179084350-179085493	GM12891	blood:	n/a	n/a
24	PAX5	chr5:179084449-179085485	GM12878	blood:	n/a	chr5:179084737-179084747 chr5:179084730-179084739
25	CTCF	chr5:179084810-179085373	GM12891	blood:	n/a	n/a
26	FOXP2	chr5:179084833-179085173	SK-N-MC	brain:	n/a	n/a
27	CTCF	chr5:179084758-179085192	A549	lung:	n/a	n/a
28	HEY1	chr5:179084508-179085315	K562	blood:	n/a	n/a
29	RXRA	chr5:179084505-179085214	HepG2	liver:	n/a	n/a
30	IRF4	chr5:179084713-179085174	GM12878	blood:	n/a	n/a
31	CTCF	chr5:179084848-179085208	Kidney_OC	kidney:	n/a	n/a
32	PAX5	chr5:179084568-179085433	GM12878	blood:	n/a	chr5:179084737-179084747 chr5:179084730-179084739
33	POLR2A	chr5:179084954-179085350	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr5:179084528-179085170	HepG2	liver:	n/a	n/a
35	JUND	chr5:179084900-179085169	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:179084801-179085608	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr5:179085000-179085374	Gliobla	brain:	n/a	n/a
38	CTCF	chr5:179084842-179085261	Lung_OC	lung:	n/a	n/a
39	MYC	chr5:179084975-179085292	HUVEC	blood vessel:	n/a	n/a
40	FOSL2	chr5:179084616-179085510	HepG2	liver:	n/a	n/a
41	NR2F2	chr5:179084324-179085786	K562	blood:	n/a	n/a
42	POLR2A	chr5:179084340-179085218	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr5:179084595-179085181	GM12892	blood:	n/a	n/a
44	POLR2A	chr5:179084700-179085330	MCF-7	breast:	n/a	n/a
45	GATA2	chr5:179084515-179085191	K562	blood:	n/a	n/a
46	POLR2A	chr5:179084477-179085449	MCF-7	breast:	n/a	n/a
47	RXRA	chr5:179084740-179085225	GM12878	blood:	n/a	n/a
48	FOXP2	chr5:179085075-179085350	PFSK-1	brain:	n/a	n/a
49	CTCF	chr5:179084871-179085195	A549	lung:	n/a	n/a
50	CTCF	chr5:179084704-179085330	A549	lung:	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	chr5:179085079-179085482	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	chr5:179084600-179085400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:179084600-179085400	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr5:179084600-179085400	Enhancers	HMEC	breast
7	chr5:179084600-179085600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:179084600-179085600	Active TSS	Duodenum Mucosa	Duodenum
9	chr5:179084600-179085600	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr5:179084600-179085600	Active TSS	HepG2	liver
11	chr5:179084600-179086000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:179084600-179086200	Active TSS	Fetal Brain Female	brain
13	chr5:179084800-179085400	Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr5:179084800-179085400	Active TSS	Muscle Satellite Cultured Cells	--
15	chr5:179084800-179085400	Active TSS	Adipose Nuclei	Adipose
16	chr5:179084800-179085400	Active TSS	Liver	Liver
17	chr5:179084800-179085400	Active TSS	Brain Anterior Caudate	brain
18	chr5:179084800-179085400	Active TSS	Fetal Muscle Leg	muscle
19	chr5:179084800-179085400	Active TSS	Psoas Muscle	Psoas
20	chr5:179084800-179085400	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:179084800-179085600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:179084800-179085600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:179084800-179085600	Active TSS	Colonic Mucosa	Colon
24	chr5:179084800-179085600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:179084800-179085600	Active TSS	Fetal Stomach	stomach
26	chr5:179084800-179085600	Active TSS	Left Ventricle	heart
27	chr5:179084800-179085600	Active TSS	A549	lung
28	chr5:179084800-179085800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr5:179084800-179085800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr5:179084800-179085800	Active TSS	Brain Substantia Nigra	brain
31	chr5:179084800-179085800	Active TSS	Colon Smooth Muscle	Colon
32	chr5:179084800-179085800	Active TSS	NHDF-Ad	bronchial
33	chr5:179084800-179086000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr5:179084800-179086000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:179084800-179086000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr5:179084800-179086000	Active TSS	Pancreas	Pancrea
37	chr5:179084800-179086000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr5:179084800-179086000	Active TSS	Rectal Smooth Muscle	rectum
39	chr5:179084800-179086000	Active TSS	Right Atrium	heart
40	chr5:179084800-179086000	Active TSS	Stomach Smooth Muscle	stomach
41	chr5:179084800-179086000	Active TSS	Osteobl	bone
42	chr5:179084800-179086200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:179084800-179086200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:179084800-179086400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:179085000-179085400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:179085000-179085400	Enhancers	Dnd41	blood

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