Variant report

Variant	esv2586584
Chromosome Location	chr12:1883343-1884771
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	EBF1	chr12:1883077-1883482	GM12878	blood:	n/a	chr12:1883242-1883253
2	EP300	chr12:1883436-1883780	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr12:1883458-1883781	SK-N-SH_RA	brain:	n/a	n/a
4	GATA3	chr12:1883314-1883890	SK-N-SH	brain:	n/a	chr12:1883388-1883395
5	GATA3	chr12:1883271-1883920	SK-N-SH	brain:	n/a	chr12:1883388-1883395
6	PBX3	chr12:1883282-1883903	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr12:1883334-1883866	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr12:1883590-1883847	MCF-7	breast:	n/a	n/a
9	POLR2A	chr12:1884756-1884765	MCF-7	breast:	n/a	n/a
10	POLR2A	chr12:1884693-1884719	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:1883353-1883827	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr12:1884768-1884775	MCF-7	breast:	n/a	n/a
13	TCF12	chr12:1883260-1883976	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr12:1883234-1883972	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:1884663..1886181-chr12:1889838..1891641,2	MCF-7	breast:
2	chr12:1797794..1800188-chr12:1882818..1885035,2	MCF-7	breast:
3	chr12:1799342..1802388-chr12:1883886..1887202,3	MCF-7	breast:
4	chr12:1883679..1886349-chr12:1898971..1901942,2	MCF-7	breast:
5	chr12:1805243..1808157-chr12:1884262..1886640,2	MCF-7	breast:
6	chr12:1874405..1877121-chr12:1883509..1886504,3	MCF-7	breast:
7	chr12:1880016..1882421-chr12:1884349..1886060,2	K562	blood:

Variant related genes	Relation type
ADIPOR2	TF binding region
ENSG00000271500	chromatin interactions
ENSG00000006831	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12829901	chr12:1883378-1883379	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188932550	chr12:1883384-1883385	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181748087	chr12:1883414-1883415	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545338275	chr12:1883415-1883416	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144149833	chr12:1883470-1883471	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547302510	chr12:1883593-1883594	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565849795	chr12:1883639-1883640	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145458346	chr12:1883647-1883648	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548276421	chr12:1883658-1883659	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539815162	chr12:1883664-1883665	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187195432	chr12:1883666-1883667	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537007259	chr12:1883677-1883678	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558518729	chr12:1883680-1883681	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374926012	chr12:1883687-1883688	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs11614639	chr12:1883689-1883690	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539300028	chr12:1883746-1883747	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569594523	chr12:1883755-1883756	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs554105967	chr12:1883811-1883812	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs536922369	chr12:1883824-1883825	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11614622	chr12:1883827-1883828	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542735461	chr12:1883836-1883837	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs148834486	chr12:1883858-1883859	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191948518	chr12:1883881-1883882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543498592	chr12:1883902-1883903	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142552852	chr12:1883903-1883904	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184199741	chr12:1883934-1883935	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547633997	chr12:1883964-1883965	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559304702	chr12:1883965-1883966	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185007995	chr12:1883987-1883988	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71055197	chr12:1884092-1884093	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs77091117	chr12:1884112-1884113	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs56396021	chr12:1884121-1884122	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs59752439	chr12:1884130-1884131	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61467184	chr12:1884133-1884134	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10848572	chr12:1884149-1884150	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10848573	chr12:1884152-1884153	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12812707	chr12:1884245-1884246	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540872549	chr12:1884249-1884250	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537142859	chr12:1884253-1884254	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562710721	chr12:1884261-1884262	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529846138	chr12:1884291-1884292	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs1860049	chr12:1884345-1884346	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376177463	chr12:1884403-1884404	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553030662	chr12:1884455-1884456	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs74792305	chr12:1884500-1884501	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs570414004	chr12:1884520-1884521	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs538979908	chr12:1884528-1884529	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs140812542	chr12:1884549-1884550	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189836091	chr12:1884568-1884569	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182439500	chr12:1884574-1884575	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1826000-1885400	Weak transcription	NH-A	brain
3	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
5	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
6	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
8	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
9	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:1862000-1894800	Weak transcription	Colonic Mucosa	Colon
12	chr12:1864800-1885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:1865000-1885200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:1867000-1890200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:1867200-1885600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:1867200-1888200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:1867200-1892600	Weak transcription	Spleen	Spleen
18	chr12:1867200-1893000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:1867600-1886800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:1867800-1885000	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:1868200-1901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:1868400-1887000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:1868800-1885000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:1869000-1884600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:1869200-1884400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:1870200-1892600	Weak transcription	Ovary	ovary
27	chr12:1871000-1885400	Weak transcription	HSMMtube	muscle
28	chr12:1875400-1883400	Weak transcription	HSMM	muscle
29	chr12:1875600-1883400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:1875600-1885000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:1875600-1885200	Weak transcription	HMEC	breast
32	chr12:1875600-1885400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:1876800-1883800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:1878600-1897800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:1879000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:1879200-1885400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:1879400-1883400	Weak transcription	NHLF	lung
38	chr12:1879400-1884400	Weak transcription	Fetal Brain Male	brain
39	chr12:1879400-1884400	Weak transcription	Fetal Brain Female	brain
40	chr12:1879400-1885000	Weak transcription	Osteobl	bone
41	chr12:1879400-1885200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:1879400-1885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:1879600-1885000	Weak transcription	NHEK	skin
44	chr12:1879600-1885200	Weak transcription	Hela-S3	cervix
45	chr12:1879800-1883400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:1880400-1885400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:1880600-1884600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:1880600-1885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:1880600-1885200	Weak transcription	Left Ventricle	heart
50	chr12:1880600-1885400	Weak transcription	Pancreas	Pancrea

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