Variant report

Variant	esv1008660
Chromosome Location	chr12:121422448-121422464
allele	n/a
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	CEBPB	chr12:121422336-121422574	HepG2	liver:	n/a	n/a
2	CHD2	chr12:121422162-121422608	HepG2	liver:	n/a	n/a
3	EGR1	chr12:121422385-121422625	K562	blood:	n/a	chr12:121422537-121422550 chr12:121422540-121422549 chr12:121422537-121422550 chr12:121422539-121422549
4	ELF1	chr12:121422079-121422711	A549	lung:	n/a	n/a
5	EP300	chr12:121421528-121422690	A549	lung:	n/a	chr12:121422537-121422553
6	EP300	chr12:121422299-121422569	HepG2	liver:	n/a	chr12:121422537-121422553
7	EP300	chr12:121422138-121422572	HepG2	liver:	n/a	chr12:121422537-121422553
8	EP300	chr12:121422149-121422652	HepG2	liver:	n/a	chr12:121422537-121422553
9	EP300	chr12:121421534-121422739	A549	lung:	n/a	chr12:121422537-121422553
10	FOSL2	chr12:121421836-121422771	A549	lung:	n/a	n/a
11	FOXA1	chr12:121422192-121422664	HepG2	liver:	n/a	n/a
12	FOXA2	chr12:121422191-121422631	A549	lung:	n/a	n/a
13	FOXA2	chr12:121422058-121422666	A549	lung:	n/a	n/a
14	FOXA2	chr12:121422166-121422542	HepG2	liver:	n/a	n/a
15	GATA2	chr12:121422172-121422607	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr12:121421982-121422855	A549	lung:	n/a	n/a
17	GATA3	chr12:121422169-121422599	T-47D	breast:	n/a	n/a
18	GATA3	chr12:121422026-121422703	A549	lung:	n/a	n/a
19	GATA3	chr12:121422162-121422586	T-47D	breast:	n/a	n/a
20	GATA3	chr12:121422106-121422577	MCF-7	breast:	n/a	n/a
21	HDAC2	chr12:121422155-121422756	HepG2	liver:	n/a	chr12:121422418-121422426
22	HEY1	chr12:121421995-121422550	HepG2	liver:	n/a	n/a
23	HNF4A	chr12:121422130-121422633	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432 chr12:121422417-121422432
24	HNF4A	chr12:121422181-121422757	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432 chr12:121422417-121422432
25	HNF4A	chr12:121422140-121422749	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432 chr12:121422417-121422432
26	HNF4G	chr12:121422218-121422749	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432
27	HNF4G	chr12:121422153-121422611	HepG2	liver:	n/a	chr12:121422418-121422432 chr12:121422419-121422431 chr12:121422418-121422426 chr12:121422417-121422432 chr12:121422418-121422432 chr12:121422417-121422432 chr12:121422418-121422431 chr12:121422417-121422425 chr12:121422417-121422432 chr12:121422419-121422431 chr12:121422417-121422432
28	MAX	chr12:121422350-121422495	HepG2	liver:	n/a	n/a
29	MAX	chr12:121421541-121422842	A549	lung:	n/a	n/a
30	MAZ	chr12:121422057-121422701	HepG2	liver:	n/a	n/a
31	MXI1	chr12:121422181-121422549	HepG2	liver:	n/a	n/a
32	MYBL2	chr12:121421602-121422792	HepG2	liver:	n/a	n/a
33	MYBL2	chr12:121421942-121422836	HepG2	liver:	n/a	n/a
34	NFIC	chr12:121422211-121422744	HepG2	liver:	n/a	n/a
35	NR3C1	chr12:121422126-121422619	A549	lung:	n/a	chr12:121422509-121422522
36	NR3C1	chr12:121422197-121422524	A549	lung:	n/a	chr12:121422509-121422522
37	NR3C1	chr12:121422148-121422599	A549	lung:	n/a	chr12:121422509-121422522
38	POLR2A	chr12:121422227-121422467	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:121422169-121422886	HepG2	liver:	n/a	n/a
40	POLR2A	chr12:121421839-121422680	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:121421557-121422770	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:121422058-121422606	HepG2	liver:	n/a	n/a
43	RAD21	chr12:121422264-121422501	HepG2	liver:	n/a	n/a
44	RCOR1	chr12:121422293-121422801	HepG2	liver:	n/a	n/a
45	RCOR1	chr12:121422423-121422709	K562	blood:	n/a	n/a
46	REST	chr12:121422151-121422492	A549	lung:	n/a	n/a
47	REST	chr12:121421536-121422866	A549	lung:	n/a	n/a
48	RFX5	chr12:121422343-121422526	HepG2	liver:	n/a	n/a
49	RXRA	chr12:121422138-121422559	HepG2	liver:	n/a	n/a
50	SMC3	chr12:121422203-121422593	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121421859..121423940-chr12:121426161..121428350,2	K562	blood:
2	chr12:121412159..121414001-chr12:121420552..121422609,2	MCF-7	breast:

Variant related genes	Relation type
HNF1A-AS1	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386767007	chr12:121422449-121422450	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs546442868	chr12:121422450-121422451	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs58367757	chr12:121422451-121422452	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121418800-121431800	Weak transcription	Fetal Stomach	stomach
3	chr12:121418800-121439400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:121419200-121431600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:121419400-121423400	Enhancers	Stomach Mucosa	stomach
6	chr12:121419600-121424200	Genic enhancers	Fetal Intestine Small	intestine
7	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
8	chr12:121419800-121429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:121421000-121422600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:121421200-121426000	Weak transcription	Gastric	stomach
11	chr12:121421200-121426400	Weak transcription	Pancreas	Pancrea
12	chr12:121421600-121422600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:121421600-121422600	Enhancers	Fetal Intestine Large	intestine
14	chr12:121421800-121422600	Flanking Active TSS	Liver	Liver
15	chr12:121421800-121422600	Flanking Active TSS	A549	lung
16	chr12:121421800-121422600	Flanking Active TSS	HepG2	liver
17	chr12:121422000-121422600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:121422000-121422600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:121422000-121422600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:121422000-121422800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:121422000-121423000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:121422000-121423400	Enhancers	Colonic Mucosa	Colon
23	chr12:121422200-121422600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:121422200-121422600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:121422200-121422600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:121422200-121422800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:121422200-121432800	Weak transcription	Fetal Kidney	kidney
28	chr12:121422400-121422800	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr12:121422400-121422800	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links