Variant report

Variant	nsv973980
Chromosome Location	chr12:1879789-1884543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:1880297-1880384	Fibrobl	skin:	n/a	n/a
2	CTCF	chr12:1880289-1880397	GM19239	blood:	n/a	n/a
3	CTCF	chr12:1880388-1880418	A549	lung:	n/a	n/a
4	EBF1	chr12:1883077-1883482	GM12878	blood:	n/a	chr12:1883242-1883253
5	EP300	chr12:1883436-1883780	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr12:1881096-1881174	GM12878	blood:	n/a	n/a
7	EP300	chr12:1883458-1883781	SK-N-SH_RA	brain:	n/a	n/a
8	GATA3	chr12:1883314-1883890	SK-N-SH	brain:	n/a	chr12:1883388-1883395
9	GATA3	chr12:1883271-1883920	SK-N-SH	brain:	n/a	chr12:1883388-1883395
10	MYC	chr12:1880236-1880449	MCF-7	breast:	n/a	n/a
11	MYC	chr12:1880270-1880415	MCF-7	breast:	n/a	n/a
12	MYC	chr12:1880303-1880440	MCF-7	breast:	n/a	n/a
13	MYC	chr12:1880254-1880405	MCF-7	breast:	n/a	n/a
14	PBX3	chr12:1883334-1883866	SK-N-SH	brain:	n/a	n/a
15	PBX3	chr12:1883282-1883903	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr12:1880167-1880466	MCF-7	breast:	n/a	n/a
17	POLR2A	chr12:1880238-1880456	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:1880133-1880551	HL-60	blood:	n/a	n/a
19	POLR2A	chr12:1880179-1880584	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:1880144-1880156	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:1880255-1880274	Gliobla	brain:	n/a	n/a
22	POLR2A	chr12:1883353-1883827	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr12:1880108-1880243	ProgFib	skin:	n/a	n/a
24	POLR2A	chr12:1883590-1883847	MCF-7	breast:	n/a	n/a
25	POLR2A	chr12:1880215-1880506	A549	lung:	n/a	n/a
26	POLR2A	chr12:1880200-1880508	MCF-7	breast:	n/a	n/a
27	POLR2A	chr12:1882449-1882475	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:1880352-1880405	Gliobla	brain:	n/a	n/a
29	POLR2A	chr12:1880331-1880339	K562	blood:	n/a	n/a
30	POLR2A	chr12:1880467-1880472	MCF-7	breast:	n/a	n/a
31	POLR2A	chr12:1880123-1880133	MCF-7	breast:	n/a	n/a
32	POLR2A	chr12:1880278-1880320	Gliobla	brain:	n/a	n/a
33	POLR2A	chr12:1880275-1880509	MCF-7	breast:	n/a	n/a
34	POLR2A	chr12:1881045-1881048	MCF-7	breast:	n/a	n/a
35	POLR2A	chr12:1881063-1881233	MCF-7	breast:	n/a	n/a
36	POLR2A	chr12:1882013-1882166	MCF-7	breast:	n/a	n/a
37	RFX5	chr12:1882598-1882643	K562	blood:	n/a	n/a
38	STAT3	chr12:1882304-1882503	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF12	chr12:1883234-1883972	SK-N-SH	brain:	n/a	n/a
40	TCF12	chr12:1883260-1883976	SK-N-SH	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1797794..1800188-chr12:1882818..1885035,2	MCF-7	breast:
2	chr12:1799342..1802388-chr12:1883886..1887202,3	MCF-7	breast:
3	chr12:1805243..1808157-chr12:1884262..1886640,2	MCF-7	breast:
4	chr12:1877224..1880546-chr12:1949279..1951143,3	MCF-7	breast:
5	chr12:1883679..1886349-chr12:1898971..1901942,2	MCF-7	breast:
6	chr12:1859249..1861989-chr12:1877875..1880136,2	MCF-7	breast:
7	chr12:1874405..1877121-chr12:1883509..1886504,3	MCF-7	breast:
8	chr12:1769575..1772464-chr12:1879364..1881156,2	MCF-7	breast:
9	chr12:1880016..1882421-chr12:1884349..1886060,2	K562	blood:
10	chr12:1869685..1874044-chr12:1876530..1880194,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADIPOR2-1	chr12:1882008-1882090	NONHSAT025411

No data

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

Extended variants
information (count: 176 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79137584	chr12:1879880-1879881	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532741002	chr12:1879892-1879893	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373555130	chr12:1879912-1879913	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538438601	chr12:1879917-1879918	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374197583	chr12:1879920-1879921	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376752133	chr12:1879921-1879922	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552600835	chr12:1879968-1879969	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550438234	chr12:1879992-1879993	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571086030	chr12:1879995-1879996	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376425710	chr12:1880010-1880011	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528772214	chr12:1880041-1880042	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547219287	chr12:1880059-1880060	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150335545	chr12:1880068-1880069	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138027447	chr12:1880155-1880156	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs66673051	chr12:1880211-1880212	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373648932	chr12:1880222-1880223	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569276600	chr12:1880235-1880236	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539802395	chr12:1880244-1880245	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs149518161	chr12:1880261-1880262	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552238450	chr12:1880281-1880282	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs573136243	chr12:1880299-1880300	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs112312040	chr12:1880312-1880313	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533822061	chr12:1880328-1880329	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs12303326	chr12:1880356-1880357	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11610411	chr12:1880360-1880361	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530019284	chr12:1880366-1880367	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs187303418	chr12:1880375-1880376	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs562200911	chr12:1880378-1880379	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs10735003	chr12:1880385-1880386	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545030237	chr12:1880389-1880390	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559891022	chr12:1880390-1880391	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs144857242	chr12:1880427-1880428	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546963510	chr12:1880471-1880472	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs374542986	chr12:1880482-1880483	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs11833957	chr12:1880490-1880491	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs562283979	chr12:1880535-1880536	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs529461363	chr12:1880578-1880579	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs368306452	chr12:1880583-1880584	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs572369849	chr12:1880624-1880625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539456168	chr12:1880677-1880678	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557983085	chr12:1880697-1880698	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551103242	chr12:1880707-1880708	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569413073	chr12:1880736-1880737	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539546766	chr12:1880793-1880794	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192951200	chr12:1880794-1880795	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562701780	chr12:1880799-1880800	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534105981	chr12:1880928-1880929	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555216868	chr12:1880957-1880958	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575973717	chr12:1881001-1881002	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58314836	chr12:1881023-1881024	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	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:338 , 50 per page) page: 1 2 3 4 5 6 7

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	chr12:1863000-1882000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:1864800-1879800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:1864800-1882200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:1864800-1885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:1865000-1885200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:1866800-1883000	Weak transcription	Fetal Heart	heart
18	chr12:1867000-1882000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:1867000-1882000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:1867000-1890200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:1867200-1880200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:1867200-1880200	Weak transcription	Esophagus	oesophagus
23	chr12:1867200-1880200	Weak transcription	Fetal Stomach	stomach
24	chr12:1867200-1880400	Weak transcription	Fetal Intestine Large	intestine
25	chr12:1867200-1882000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:1867200-1882000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:1867200-1882000	Weak transcription	Thymus	Thymus
28	chr12:1867200-1883000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:1867200-1885600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:1867200-1888200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:1867200-1892600	Weak transcription	Spleen	Spleen
32	chr12:1867200-1893000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:1867600-1880000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:1867600-1882000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:1867600-1882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:1867600-1882000	Weak transcription	Placenta	Placenta
37	chr12:1867600-1886800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:1867800-1885000	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:1868200-1882000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:1868200-1901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:1868400-1882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:1868400-1887000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:1868800-1885000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:1869000-1882000	Weak transcription	Fetal Lung	lung
45	chr12:1869000-1883000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:1869000-1884600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:1869200-1884400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:1870000-1882000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:1870000-1882000	Weak transcription	Primary B cells from cord blood	blood
50	chr12:1870200-1892600	Weak transcription	Ovary	ovary

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