Variant report

Variant	esv3340160
Chromosome Location	chr12:1923891-1928089
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	ARID3A	chr12:1925448-1925599	HepG2	liver:	n/a	n/a
2	BCL3	chr12:1925752-1926306	GM12878	blood:	n/a	n/a
3	BCL3	chr12:1925781-1926303	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:1925707-1926113	K562	blood:	n/a	n/a
5	CEBPB	chr12:1925068-1925245	K562	blood:	n/a	chr12:1925179-1925190
6	CEBPB	chr12:1925008-1925361	HepG2	liver:	n/a	chr12:1925179-1925190
7	CEBPB	chr12:1925092-1925284	HepG2	liver:	n/a	chr12:1925179-1925190
8	CEBPB	chr12:1925053-1925265	IMR90	lung:	n/a	chr12:1925179-1925190
9	CTCF	chr12:1925900-1926050	HepG2	liver:	n/a	n/a
10	CTCF	chr12:1927916-1927987	GM10248	blood:	n/a	n/a
11	CTCF	chr12:1925953-1925973	GM19239	blood:	n/a	n/a
12	CTCF	chr12:1925920-1926070	Caco-2	colon:	n/a	n/a
13	EP300	chr12:1924947-1925773	HepG2	liver:	n/a	n/a
14	EP300	chr12:1925248-1925769	HepG2	liver:	n/a	n/a
15	EP300	chr12:1925149-1925618	HepG2	liver:	n/a	n/a
16	FOS	chr12:1925021-1925280	MCF10A-Er-Src	breast:	n/a	chr12:1925131-1925142
17	FOS	chr12:1925053-1925328	MCF10A-Er-Src	breast:	n/a	chr12:1925131-1925142
18	FOS	chr12:1925104-1925186	MCF10A-Er-Src	breast:	n/a	chr12:1925131-1925142
19	FOSL2	chr12:1924926-1925802	HepG2	liver:	n/a	chr12:1925131-1925142
20	FOXA1	chr12:1925000-1925687	HepG2	liver:	n/a	n/a
21	FOXA2	chr12:1925710-1926020	HepG2	liver:	n/a	n/a
22	FOXA2	chr12:1925007-1925289	HepG2	liver:	n/a	n/a
23	GATA2	chr12:1924324-1924546	SH-SY5Y	brain:	n/a	n/a
24	GATA2	chr12:1927563-1927822	K562	blood:	n/a	n/a
25	GATA2	chr12:1925669-1926002	SH-SY5Y	brain:	n/a	n/a
26	HDAC2	chr12:1925410-1925788	HepG2	liver:	n/a	n/a
27	HNF4A	chr12:1925354-1925799	HepG2	liver:	n/a	chr12:1925542-1925555 chr12:1925540-1925555 chr12:1925541-1925555
28	HNF4A	chr12:1925331-1925735	HepG2	liver:	n/a	chr12:1925542-1925555 chr12:1925540-1925555 chr12:1925541-1925555
29	HNF4G	chr12:1925333-1925828	HepG2	liver:	n/a	chr12:1925542-1925555 chr12:1925541-1925555 chr12:1925541-1925556
30	MAX	chr12:1925736-1926202	NB4	blood:	n/a	chr12:1926066-1926076 chr12:1926005-1926015
31	MBD4	chr12:1925424-1926119	HepG2	liver:	n/a	n/a
32	MXI1	chr12:1925578-1926195	HepG2	liver:	n/a	n/a
33	MYBL2	chr12:1925085-1925777	HepG2	liver:	n/a	n/a
34	MYBL2	chr12:1925310-1925864	HepG2	liver:	n/a	n/a
35	MYC	chr12:1925970-1925981	MCF-7	breast:	n/a	n/a
36	MYC	chr12:1925545-1925559	HepG2	liver:	n/a	n/a
37	MYC	chr12:1925583-1925584	HepG2	liver:	n/a	n/a
38	MYC	chr12:1925596-1925604	HepG2	liver:	n/a	n/a
39	MYC	chr12:1925978-1926040	GM12878	blood:	n/a	chr12:1926005-1926015
40	MYC	chr12:1926043-1926044	MCF-7	breast:	n/a	n/a
41	MYC	chr12:1925580-1925634	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr12:1925959-1926093	NB4	blood:	n/a	chr12:1926066-1926076 chr12:1926005-1926015
43	MYC	chr12:1925941-1925968	MCF-7	breast:	n/a	n/a
44	MYC	chr12:1926028-1926036	MCF-7	breast:	n/a	n/a
45	MYC	chr12:1925496-1925543	HepG2	liver:	n/a	n/a
46	NFATC1	chr12:1925690-1926202	GM12878	blood:	n/a	n/a
47	NFATC1	chr12:1925684-1926266	GM12878	blood:	n/a	n/a
48	NFIC	chr12:1925446-1925741	HepG2	liver:	n/a	n/a
49	NFIC	chr12:1925815-1926198	GM12878	blood:	n/a	n/a
50	NR2F2	chr12:1927430-1927980	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:1925102..1928805-chr12:1946979..1949915,3	MCF-7	breast:
2	chr12:1923072..1925795-chr12:1938699..1940589,2	MCF-7	breast:
3	chr12:1923163..1923961-chr12:1939620..1940160,2	MCF-7	breast:
4	chr12:1915615..1917986-chr12:1924786..1926838,2	K562	blood:
5	chr12:1923066..1926339-chr12:1927484..1932040,5	MCF-7	breast:
6	chr12:1923170..1924049-chr12:2041180..2042060,3	MCF-7	breast:

Variant related genes	Relation type
CACNA2D4	TF binding region
LRTM2	TF binding region
ENSG00000166159	chromatin interactions

Extended variants
information (count: 204 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34901351	chr12:1923928-1923929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184180293	chr12:1923929-1923930	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377347172	chr12:1923982-1923983	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572581832	chr12:1924084-1924085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs151193758	chr12:1924087-1924088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561362446	chr12:1924124-1924125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139163869	chr12:1924172-1924173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149950957	chr12:1924201-1924202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565190099	chr12:1924203-1924204	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34715276	chr12:1924211-1924212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112799056	chr12:1924255-1924256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529877320	chr12:1924291-1924292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142323053	chr12:1924303-1924304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569370208	chr12:1924325-1924326	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536652102	chr12:1924338-1924339	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551727077	chr12:1924362-1924363	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535037444	chr12:1924381-1924382	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144626372	chr12:1924410-1924411	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373573022	chr12:1924429-1924430	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185866116	chr12:1924430-1924431	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs554421783	chr12:1924435-1924436	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs572596207	chr12:1924535-1924536	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs536828970	chr12:1924552-1924553	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs7964245	chr12:1924569-1924570	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs200855609	chr12:1924633-1924634	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs56063849	chr12:1924678-1924679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543861454	chr12:1924735-1924736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372565247	chr12:1924739-1924740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147890595	chr12:1924749-1924750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541701384	chr12:1924754-1924755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376078781	chr12:1924762-1924763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs56927160	chr12:1924769-1924770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559802386	chr12:1924811-1924812	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559595145	chr12:1924812-1924813	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141642344	chr12:1924837-1924838	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143729107	chr12:1924857-1924858	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189796796	chr12:1924937-1924938	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs530487307	chr12:1924999-1925000	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs552231760	chr12:1925000-1925001	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs570378844	chr12:1925157-1925158	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs76981989	chr12:1925161-1925162	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs182403341	chr12:1925170-1925171	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs566326218	chr12:1925198-1925199	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs551874137	chr12:1925261-1925262	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555175415	chr12:1925294-1925295	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs35000021	chr12:1925299-1925300	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373859207	chr12:1925314-1925315	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs115600056	chr12:1925315-1925316	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs148134497	chr12:1925344-1925345	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs141056505	chr12:1925353-1925354	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1905600-1928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:1918200-1924000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:1918800-1924000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:1919200-1924000	Enhancers	Adipose Nuclei	Adipose
5	chr12:1919800-1926000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:1920000-1925600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:1920000-1939400	Weak transcription	Gastric	stomach
8	chr12:1921200-1925400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:1921400-1925400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:1922600-1925000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:1922600-1925000	Enhancers	HepG2	liver
12	chr12:1922600-1925400	Weak transcription	Fetal Thymus	thymus
13	chr12:1922600-1925800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:1923200-1924000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:1923400-1924000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:1924000-1925600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:1924800-1926600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr12:1925000-1926200	Enhancers	Fetal Intestine Small	intestine
19	chr12:1925000-1926200	Flanking Active TSS	HepG2	liver
20	chr12:1925200-1925400	Enhancers	Fetal Heart	heart
21	chr12:1925200-1925400	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr12:1925200-1925800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:1925400-1925600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:1925400-1925800	Enhancers	Fetal Intestine Large	intestine
25	chr12:1925400-1925800	Enhancers	Fetal Thymus	thymus
26	chr12:1925400-1926000	Bivalent Enhancer	Placenta	Placenta
27	chr12:1925400-1926200	Bivalent Enhancer	Fetal Heart	heart
28	chr12:1925600-1925800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:1925600-1925800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:1925600-1925800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr12:1925600-1926400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:1925800-1926000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:1925800-1926000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:1925800-1926000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:1925800-1926000	Enhancers	Psoas Muscle	Psoas
36	chr12:1925800-1926200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:1925800-1926200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:1925800-1926200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr12:1925800-1926400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:1925800-1926600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr12:1926000-1926200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:1926000-1926200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:1926000-1926200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:1926000-1926200	Bivalent Enhancer	Fetal Brain Male	brain
45	chr12:1926000-1926200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
46	chr12:1926000-1926200	Bivalent Enhancer	K562	blood
47	chr12:1926200-1926600	Enhancers	HepG2	liver
48	chr12:1926200-1928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:1926400-1926800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr12:1926600-1928200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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