Variant report

Variant	rs542146313
Chromosome Location	chr20:23342133-23342134
allele	A/C
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	SP1	chr20:23342110-23343043	GM12878	blood:	n/a	chr20:23342747-23342756 chr20:23342529-23342539 chr20:23342530-23342539 chr20:23342748-23342757 chr20:23342528-23342540 chr20:23342188-23342200 chr20:23342529-23342538 chr20:23342529-23342539 chr20:23342797-23342807 chr20:23342529-23342543 chr20:23342529-23342538 chr20:23342528-23342540
2	GABPA	chr20:23342095-23342758	A549	lung:	n/a	chr20:23342575-23342589 chr20:23342530-23342539 chr20:23342575-23342586 chr20:23342575-23342584 chr20:23342572-23342586
3	TAF1	chr20:23342048-23343519	HepG2	liver:	n/a	n/a
4	HEY1	chr20:23341614-23343339	HepG2	liver:	n/a	chr20:23342230-23342245 chr20:23342846-23342861 chr20:23342852-23342867
5	SIN3AK20	chr20:23341477-23343789	MCF-7	breast:	n/a	n/a
6	TCF7L2	chr20:23342090-23342821	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr20:23341578-23343854	HepG2	liver:	n/a	n/a
8	NFATC1	chr20:23342119-23342634	GM12878	blood:	n/a	n/a
9	POLR2A	chr20:23342072-23342725	U87	brain:	n/a	n/a
10	POLR2A	chr20:23341767-23343358	HUVEC	blood vessel:	n/a	n/a
11	PML	chr20:23342105-23342896	MCF-7	breast:	n/a	n/a
12	PAX5	chr20:23341997-23342828	GM12878	blood:	n/a	chr20:23342300-23342310
13	CHD2	chr20:23341879-23343071	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr20:23342118-23343224	GM10847	blood:	n/a	n/a
15	MYC	chr20:23342015-23342953	Hela-S3	cervix:	n/a	chr20:23342507-23342516 chr20:23342510-23342518 chr20:23342189-23342199
16	REST	chr20:23341663-23343881	H1-neurons	neurons:	n/a	chr20:23342152-23342165 chr20:23342981-23342994 chr20:23343187-23343196 chr20:23343180-23343193 chr20:23342841-23342850 chr20:23342155-23342168
17	ATF3	chr20:23342100-23342845	HCT-116	colon:	n/a	chr20:23342531-23342551 chr20:23342530-23342539 chr20:23342229-23342238 chr20:23342507-23342516
18	POLR2A	chr20:23341698-23343012	HCT-116	colon:	n/a	n/a
19	HA-E2F1	chr20:23341984-23343188	Hela-S3	cervix:	n/a	chr20:23342530-23342539 chr20:23342984-23342994 chr20:23342576-23342585 chr20:23342915-23342924 chr20:23342679-23342688 chr20:23343149-23343161 chr20:23342858-23342868 chr20:23342916-23342926 chr20:23342764-23342773
20	POLR2A	chr20:23342113-23343344	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr20:23341677-23343139	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr20:23341795-23342974	HepG2	liver:	n/a	chr20:23342621-23342632
23	EBF1	chr20:23341981-23342696	GM12878	blood:	n/a	n/a
24	ETS1	chr20:23341839-23342774	A549	lung:	n/a	chr20:23342439-23342449 chr20:23342438-23342449 chr20:23342682-23342693 chr20:23342531-23342542
25	TAF1	chr20:23341765-23343303	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAZ	chr20:23341977-23343190	HepG2	liver:	n/a	chr20:23342507-23342516 chr20:23342510-23342518 chr20:23342189-23342199
27	SIN3AK20	chr20:23341981-23343589	MCF-7	breast:	n/a	n/a
28	POLR2A	chr20:23341733-23343001	GM12892	blood:	n/a	n/a
29	USF1	chr20:23342129-23342957	HCT-116	colon:	n/a	chr20:23342506-23342515 chr20:23342508-23342517 chr20:23342501-23342522 chr20:23342507-23342516 chr20:23342850-23342866 chr20:23342505-23342518 chr20:23342909-23342925 chr20:23342842-23342858 chr20:23342162-23342178 chr20:23342507-23342516 chr20:23342406-23342422 chr20:23342847-23342863
30	YY1	chr20:23342097-23342964	GM12892	blood:	n/a	chr20:23342874-23342888 chr20:23342913-23342927 chr20:23342804-23342818 chr20:23342915-23342924 chr20:23342918-23342927 chr20:23342779-23342793 chr20:23342530-23342539 chr20:23342857-23342871 chr20:23342912-23342926
31	HMGN3	chr20:23342065-23343517	K562	blood:	n/a	n/a
32	MYC	chr20:23341817-23343178	K562	blood:	n/a	chr20:23342507-23342516 chr20:23342510-23342518 chr20:23342189-23342199
33	SMARCB1	chr20:23341980-23343501	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr20:23342075-23343607	GM12878	blood:	n/a	n/a
35	MAX	chr20:23342058-23343339	MCF-7	breast:	n/a	chr20:23342507-23342516 chr20:23342510-23342518 chr20:23342189-23342199
36	POLR2A	chr20:23342087-23343032	GM12891	blood:	n/a	n/a
37	REST	chr20:23341662-23342772	A549	lung:	n/a	chr20:23342152-23342165 chr20:23342155-23342168
38	ELF1	chr20:23341926-23342991	MCF-7	breast:	n/a	chr20:23342914-23342926 chr20:23342438-23342447 chr20:23342434-23342447 chr20:23342918-23342927 chr20:23342774-23342786
39	POLR2A	chr20:23341883-23342654	GM12878	blood:	n/a	n/a
40	MAX	chr20:23341652-23343723	HepG2	liver:	n/a	chr20:23342507-23342516 chr20:23342510-23342518 chr20:23342189-23342199
41	SP1	chr20:23342078-23343110	HCT-116	colon:	n/a	chr20:23342747-23342756 chr20:23342529-23342539 chr20:23342530-23342539 chr20:23342748-23342757 chr20:23342528-23342540 chr20:23342188-23342200 chr20:23342529-23342538 chr20:23342529-23342539 chr20:23342797-23342807 chr20:23342529-23342543 chr20:23342529-23342538 chr20:23342528-23342540
42	MAFF	chr20:23341734-23342154	K562	blood:	n/a	chr20:23342014-23342032
43	POLR2A	chr20:23342129-23342676	Hela-S3	cervix:	n/a	n/a
44	ELK1	chr20:23342008-23342702	GM12878	blood:	n/a	n/a
45	POLR2A	chr20:23342090-23343241	A549	lung:	n/a	n/a
46	FOSL2	chr20:23341729-23342815	A549	lung:	n/a	chr20:23342531-23342540 chr20:23342465-23342479
47	POLR2A	chr20:23341933-23343107	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr20:23341738-23343553	GM12892	blood:	n/a	n/a
49	CTCF	chr20:23342100-23342250	NHDF-neo	bronchial:	n/a	chr20:23342161-23342174
50	POLR2A	chr20:23341746-23344311	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:20922188..20924523-chr20:23341669..23343744,2	MCF-7	breast:
2	chr20:23340954..23342681-chr20:23403293..23405458,3	MCF-7	breast:
3	chr20:23340976..23344072-chr20:23400128..23403114,5	K562	blood:
4	chr20:23342068..23342615-chr6:16129171..16129844,2	HCT-116	colon:
5	chr20:23342009..23344759-chr20:23616093..23619702,3	MCF-7	breast:
6	chr19:49303116..49303675-chr20:23341504..23342477,2	Hela-S3	cervix:
7	chr17:56735124..56736858-chr20:23339891..23342718,2	MCF-7	breast:
8	chr20:23341938..23342938-chr7:44613359..44613870,2	HCT-116	colon:
9	chr20:23029581..23032412-chr20:23340332..23342331,2	MCF-7	breast:
10	chr20:23337918..23344174-chr20:23400107..23404916,9	MCF-7	breast:
11	chr12:7052555..7053156-chr20:23342059..23342617,2	NB4	blood:
12	chr15:71407056..71408775-chr20:23342043..23343755,2	MCF-7	breast:
13	chr20:23318136..23319028-chr20:23341404..23342333,4	MCF-7	breast:
14	chr20:23340884..23343229-chr20:23616953..23618725,2	K562	blood:
15	chr11:61735662..61736427-chr20:23341928..23342453,2	Hela-S3	cervix:
16	chr20:23342007..23342541-chr6:30457292..30457800,2	NB4	blood:
17	chr20:23339750..23342379-chr20:23399207..23403196,4	MCF-7	breast:
18	chr20:23342090..23342675-chr20:42218497..42219055,2	Hela-S3	cervix:
19	chr20:23338809..23345308-chr20:23399768..23403114,12	K562	blood:
20	chr20:23318446..23319028-chr20:23341404..23342333,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232645	TF binding region
GZF1	TF binding region
ENSG00000125814	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000178726	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000007944	Chromatin interaction
ENSG00000225362	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000101439	Chromatin interaction
ENSG00000136271	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23339200-23342200	Weak transcription	Spleen	Spleen
2	chr20:23341000-23342200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:23341200-23342400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:23341200-23343600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr20:23341400-23342200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr20:23341400-23342200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr20:23341400-23342200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr20:23341400-23342200	Flanking Active TSS	Dnd41	blood
9	chr20:23341400-23342200	Flanking Active TSS	GM12878-XiMat	blood
10	chr20:23341400-23342200	Flanking Active TSS	NHLF	lung
11	chr20:23341400-23342400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr20:23341400-23342400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:23341400-23342400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr20:23341400-23342400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr20:23341400-23343800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr20:23341600-23342200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr20:23341600-23342200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr20:23341600-23342200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr20:23341600-23342200	Flanking Active TSS	Fetal Thymus	thymus
20	chr20:23341600-23342200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr20:23341600-23342200	Flanking Active TSS	HMEC	breast
22	chr20:23341600-23342200	Flanking Active TSS	HSMM	muscle
23	chr20:23341600-23342200	Flanking Active TSS	HUVEC	blood vessel
24	chr20:23341600-23342200	Flanking Active TSS	Osteobl	bone
25	chr20:23341600-23342400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr20:23341600-23342400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr20:23341600-23342400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr20:23341600-23342400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr20:23341600-23342400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr20:23341600-23342400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr20:23341600-23343600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr20:23341600-23343800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr20:23341600-23343800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr20:23341800-23342200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr20:23341800-23342200	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr20:23341800-23342200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr20:23341800-23342200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr20:23341800-23342200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr20:23341800-23342200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr20:23341800-23342200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr20:23341800-23342200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr20:23341800-23342200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr20:23341800-23342200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr20:23341800-23342200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr20:23341800-23342200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr20:23341800-23342200	Flanking Active TSS	Fetal Brain Male	brain
47	chr20:23341800-23342200	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr20:23341800-23342200	Flanking Active TSS	Stomach Mucosa	stomach
49	chr20:23341800-23342200	Flanking Active TSS	Thymus	Thymus
50	chr20:23341800-23342200	Flanking Active TSS	NH-A	brain

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