Variant report

Variant	rs539057462
Chromosome Location	chr20:23341581-23341582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr20:23341477-23343789	MCF-7	breast:	n/a	n/a
2	POLR2A	chr20:23341578-23343854	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:23341369-23343586	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr20:23341167-23343080	HepG2	liver:	n/a	n/a
5	MAZ	chr20:23341574-23344142	IMR90	lung:	n/a	chr20:23342507-23342516 chr20:23342510-23342518 chr20:23342189-23342199
6	MXI1	chr20:23341170-23344193	SK-N-SH	brain:	n/a	n/a
7	CHD1	chr20:23341243-23344756	IMR90	lung:	n/a	n/a
8	POLR2A	chr20:23341234-23343042	K562	blood:	n/a	n/a
9	POLR2A	chr20:23341110-23343194	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr20:23341279-23355011	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:23341222-23343551	GM12878	blood:	n/a	n/a
12	POLR2A	chr20:23341552-23343561	NB4	blood:	n/a	n/a
13	POLR2A	chr20:23341168-23344354	Raji	blood:	n/a	n/a
14	POLR2A	chr20:23341544-23341629	GM12878	blood:	n/a	n/a
15	POLR2A	chr20:23341189-23342058	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr20:23341549-23343308	Hela-S3	cervix:	n/a	n/a
17	MYC	chr20:23341411-23343293	A549	lung:	n/a	chr20:23342507-23342516 chr20:23342510-23342518 chr20:23342189-23342199
18	POLR2A	chr20:23341069-23355530	K562	blood:	n/a	n/a
19	POLR2A	chr20:23341210-23343158	HCT-116	colon:	n/a	n/a
20	POLR2A	chr20:23340935-23347328	IMR90	lung:	n/a	n/a
21	POLR2A	chr20:23341467-23342627	HepG2	liver:	n/a	n/a
22	POLR2A	chr20:23341289-23344381	PBDE	blood:	n/a	n/a
23	POLR2A	chr20:23341293-23343310	K562	blood:	n/a	n/a
24	MAX	chr20:23341555-23343544	A549	lung:	n/a	chr20:23342507-23342516 chr20:23342510-23342518 chr20:23342189-23342199
25	POLR2A	chr20:23341223-23343028	K562	blood:	n/a	n/a
26	POLR2A	chr20:23341450-23343814	K562	blood:	n/a	n/a
27	POLR2A	chr20:23341205-23343204	K562	blood:	n/a	n/a
28	POLR2A	chr20:23341195-23344128	K562	blood:	n/a	n/a
29	POLR2A	chr20:23341008-23344686	HepG2	liver:	n/a	n/a
30	POLR2A	chr20:23341375-23343592	GM19099	blood:	n/a	n/a
31	POLR2A	chr20:23341379-23343291	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr20:23341006-23343669	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr20:23341197-23343602	HepG2	liver:	n/a	n/a
34	POLR2A	chr20:23341174-23344367	GM12878	blood:	n/a	n/a
35	POLR2A	chr20:23341111-23344823	GM12891	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23340954..23342681-chr20:23403293..23405458,3	MCF-7	breast:
2	chr20:23340976..23344072-chr20:23400128..23403114,5	K562	blood:
3	chr20:23339592..23341756-chr20:23608896..23611631,2	MCF-7	breast:
4	chr20:23341106..23341648-chr20:46264595..46265211,2	MCF-7	breast:
5	chr19:49303116..49303675-chr20:23341504..23342477,2	Hela-S3	cervix:
6	chr17:56735124..56736858-chr20:23339891..23342718,2	MCF-7	breast:
7	chr20:23029581..23032412-chr20:23340332..23342331,2	MCF-7	breast:
8	chr20:23337918..23344174-chr20:23400107..23404916,9	MCF-7	breast:
9	chr20:23318136..23319028-chr20:23341404..23342333,4	MCF-7	breast:
10	chr20:23340884..23343229-chr20:23616953..23618725,2	K562	blood:
11	chr20:23339311..23341771-chr20:23390617..23393220,2	MCF-7	breast:
12	chr20:23339750..23342379-chr20:23399207..23403196,4	MCF-7	breast:
13	chr20:23338809..23345308-chr20:23399768..23403114,12	K562	blood:
14	chr20:23318446..23319028-chr20:23341404..23342333,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232645	TF binding region
GZF1	TF binding region
ENSG00000101439	Chromatin interaction
ENSG00000125814	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3338336	chr20:23341577-23344125	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 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	chr20:23338800-23341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:23338800-23341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:23338800-23341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:23338800-23341800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:23338800-23341800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr20:23338800-23342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23338800-23342000	Weak transcription	Gastric	stomach
8	chr20:23339200-23341600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr20:23339200-23341600	Weak transcription	HSMMtube	muscle
10	chr20:23339200-23341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:23339200-23341800	Weak transcription	Esophagus	oesophagus
12	chr20:23339200-23341800	Weak transcription	Lung	lung
13	chr20:23339200-23341800	Weak transcription	Ovary	ovary
14	chr20:23339200-23342000	Weak transcription	Aorta	Aorta
15	chr20:23339200-23342200	Weak transcription	Spleen	Spleen
16	chr20:23339400-23341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr20:23339400-23341600	Enhancers	Fetal Intestine Large	intestine
18	chr20:23339400-23341600	Weak transcription	NH-A	brain
19	chr20:23339400-23341800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr20:23339400-23341800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr20:23339400-23341800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr20:23339400-23341800	Enhancers	Fetal Intestine Small	intestine
23	chr20:23339400-23341800	Weak transcription	Right Atrium	heart
24	chr20:23339400-23341800	Weak transcription	Right Ventricle	heart
25	chr20:23339600-23341600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr20:23339600-23341600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr20:23339600-23341600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr20:23339600-23341600	Weak transcription	HSMM	muscle
29	chr20:23339600-23341800	Enhancers	Stomach Mucosa	stomach
30	chr20:23339800-23341600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr20:23339800-23341600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr20:23339800-23341600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:23339800-23341600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr20:23339800-23341600	Enhancers	Duodenum Mucosa	Duodenum
35	chr20:23339800-23341600	Weak transcription	Fetal Brain Female	brain
36	chr20:23339800-23341600	Weak transcription	Thymus	Thymus
37	chr20:23339800-23341600	Weak transcription	NHEK	skin
38	chr20:23339800-23341800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr20:23339800-23341800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr20:23339800-23341800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:23339800-23341800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:23339800-23341800	Weak transcription	Brain Germinal Matrix	brain
43	chr20:23339800-23341800	Enhancers	Fetal Heart	heart
44	chr20:23339800-23341800	Weak transcription	Placenta	Placenta
45	chr20:23339800-23341800	Weak transcription	Fetal Stomach	stomach
46	chr20:23339800-23341800	Weak transcription	Small Intestine	intestine
47	chr20:23340000-23341600	Weak transcription	Brain Anterior Caudate	brain
48	chr20:23340000-23341800	Weak transcription	Colonic Mucosa	Colon
49	chr20:23340200-23341800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr20:23340200-23341800	Weak transcription	Left Ventricle	heart

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