Variant report

Variant	esv1751483
Chromosome Location	chr12:120731665-120731667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:120730395-120731708	A549	lung:	n/a	n/a
2	GATA3	chr12:120731500-120731951	SH-SY5Y	brain:	n/a	n/a
3	HEY1	chr12:120731438-120731665	K562	blood:	n/a	n/a
4	HEY1	chr12:120730229-120731670	HepG2	liver:	n/a	n/a
5	NR2F2	chr12:120728927-120731769	K562	blood:	n/a	n/a
6	PML	chr12:120728682-120731726	K562	blood:	n/a	n/a
7	POLR2A	chr12:120728596-120731711	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr12:120728871-120731683	K562	blood:	n/a	n/a
9	POLR2A	chr12:120728373-120731839	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:120731658-120731835	K562	blood:	n/a	n/a
11	POLR2A	chr12:120728682-120731817	HCT-116	colon:	n/a	n/a
12	POLR2A	chr12:120730454-120731667	NB4	blood:	n/a	n/a
13	POLR2A	chr12:120731456-120731694	HCT-116	colon:	n/a	n/a
14	POLR2A	chr12:120731418-120731725	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr12:120731441-120731708	K562	blood:	n/a	n/a
16	POLR2A	chr12:120731390-120731669	Hela-S3	cervix:	n/a	n/a
17	TAF7	chr12:120728675-120731670	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF7	chr12:120731460-120731723	K562	blood:	n/a	n/a
19	ZNF384	chr12:120730615-120731942	K562	blood:	n/a	n/a

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:120727403..120732311-chr12:120930839..120935563,15	MCF-7	breast:
2	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120729296..120732108-chr20:55839682..55842744,3	MCF-7	breast:
5	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
6	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
7	chr12:120729435..120731983-chr8:134582585..134585129,2	MCF-7	breast:
8	chr12:120728284..120732232-chr12:120880260..120886911,13	MCF-7	breast:
9	chr12:120729706..120732065-chr3:126372356..126374357,2	MCF-7	breast:
10	chr1:149223229..149225374-chr12:120730231..120732442,3	MCF-7	breast:
11	chr12:120729670..120732552-chr19:42756449..42758541,2	K562	blood:
12	chr12:120728333..120732236-chr22:23519442..23524202,7	K562	blood:
13	chr12:120628864..120642103-chr12:120725347..120732286,54	K562	blood:
14	chr12:120728080..120732034-chr12:120882797..120888425,5	K562	blood:
15	chr12:120729630..120732175-chr14:50064387..50066084,2	MCF-7	breast:
16	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
17	chr12:120729295..120732240-chr12:121229424..121231608,2	K562	blood:
18	chr12:120727833..120732436-chr12:120750797..120758239,21	K562	blood:
19	chr12:120731520..120734276-chr17:57914284..57916496,2	MCF-7	breast:
20	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
21	chr12:120424699..120427677-chr12:120728453..120732318,6	K562	blood:
22	chr12:120728477..120731826-chr12:120874371..120876435,3	K562	blood:
23	chr12:120727224..120732436-chr12:120750439..120758135,29	K562	blood:
24	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
25	chr12:120730827..120732548-chr16:28844390..28846732,2	MCF-7	breast:
26	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
27	chr12:118814110..118815934-chr12:120730037..120732286,2	MCF-7	breast:
28	chr12:120631139..120640506-chr12:120724902..120734482,54	K562	blood:
29	chr12:120727155..120732265-chr12:120871900..120878042,6	MCF-7	breast:
30	chr12:120515699..120519633-chr12:120727984..120732928,6	MCF-7	breast:
31	chr12:120728504..120731843-chr17:56707749..56710958,4	MCF-7	breast:
32	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
33	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
34	chr12:120729625..120732336-chr8:146016305..146017842,2	MCF-7	breast:
35	chr12:120729518..120732043-chr3:101568361..101570106,2	K562	blood:
36	chr12:120731363..120732923-chr6:44212681..44214958,2	MCF-7	breast:
37	chr12:120612920..120617279-chr12:120727207..120731965,7	MCF-7	breast:
38	chr12:120685626..120692224-chr12:120727115..120732105,16	K562	blood:
39	chr12:120727172..120733111-chr12:120749358..120767260,47	MCF-7	breast:
40	chr11:93472782..93475284-chr12:120730109..120732929,2	MCF-7	breast:
41	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
42	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
43	chr12:120730479..120733024-chr17:58677201..58678769,2	MCF-7	breast:
44	chr12:120730545..120732860-chr16:21170253..21173007,2	MCF-7	breast:
45	chr12:120606014..120608808-chr12:120727801..120732027,4	MCF-7	breast:
46	chr12:120729609..120731895-chr19:54605213..54606935,2	MCF-7	breast:
47	chr12:120728393..120731711-chr12:120805239..120807118,3	MCF-7	breast:
48	chr12:120699116..120708865-chr12:120725013..120732311,37	K562	blood:
49	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
50	chr12:39835813..39837314-chr12:120729486..120732278,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU4-1	TF binding region
RNU4-2	TF binding region
ENSG00000168488	chromatin interactions
ENSG00000156831	chromatin interactions
ENSG00000197763	chromatin interactions
ENSG00000008513	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000115970	chromatin interactions
ENSG00000164961	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000165501	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000253459	chromatin interactions
ENSG00000240925	chromatin interactions
ENSG00000213741	chromatin interactions
ENSG00000256569	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000135097	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000161016	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000111775	chromatin interactions
ENSG00000170906	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000145912	chromatin interactions
ENSG00000180694	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000265455	chromatin interactions
ENSG00000139116	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000252659	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000170909	chromatin interactions
ENSG00000230615	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000170855	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000166477	chromatin interactions
ENSG00000111786	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000111780	chromatin interactions
ENSG00000022840	chromatin interactions
ENSG00000111707	chromatin interactions
ENSG00000158486	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000157837	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000170890	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 72 )

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	rs572472384	chr12:120731666-120731667	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	59 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120729000-120731800	Active TSS	A549	lung
2	chr12:120731000-120731800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:120731400-120731800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:120731400-120734400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:120731400-120739800	Weak transcription	Right Atrium	heart
6	chr12:120731400-120740000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:120731600-120731800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:120731600-120731800	Enhancers	Liver	Liver
9	chr12:120731600-120731800	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:120731600-120731800	Enhancers	Fetal Brain Male	brain
11	chr12:120731600-120732600	Enhancers	HepG2	liver

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