Variant report

Variant	nsv983263
Chromosome Location	chr12:1896394-1898817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:1890411..1894703-chr12:1895509..1898196,4	K562	blood:
2	chr12:1889254..1891602-chr12:1898742..1901715,2	MCF-7	breast:
3	chr12:1875581..1877544-chr12:1893631..1897459,3	MCF-7	breast:
4	chr12:1892244..1894703-chr12:1895509..1898196,2	K562	blood:
5	chr12:1894451..1896976-chr12:1899245..1901715,2	K562	blood:
6	chr12:1872563..1875477-chr12:1898217..1901063,2	MCF-7	breast:
7	chr12:1703685..1705372-chr12:1898619..1900530,2	K562	blood:
8	chr12:1799462..1802204-chr12:1898001..1899846,2	MCF-7	breast:
9	chr12:1896710..1899686-chr6:3019390..3022643,4	K562	blood:
10	chr12:1895293..1898168-chr12:1899496..1904929,5	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ADIPOR2	hsa-miR-124-3p	chr12:1897550-1897556

Variant related genes	Relation type
ENSG00000006831	chromatin interactions
ENSG00000270346	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562291132	chr12:1896429-1896430	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189099288	chr12:1896436-1896437	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181830776	chr12:1896516-1896517	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139802273	chr12:1896528-1896529	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377700019	chr12:1896550-1896551	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533115679	chr12:1896566-1896567	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375357531	chr12:1896592-1896593	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146202000	chr12:1896623-1896624	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560062381	chr12:1896624-1896625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34875796	chr12:1896629-1896630	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548941354	chr12:1896631-1896632	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs118072044	chr12:1896638-1896639	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185798726	chr12:1896654-1896655	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139207148	chr12:1896697-1896698	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142589818	chr12:1896722-1896723	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189034317	chr12:1896728-1896729	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150982950	chr12:1896743-1896744	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573611367	chr12:1896765-1896766	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2286382	chr12:1896779-1896780	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs180939065	chr12:1896787-1896788	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574128778	chr12:1896826-1896827	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544387816	chr12:1896830-1896831	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139590556	chr12:1896854-1896855	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12342	chr12:1896880-1896881	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550919091	chr12:1896881-1896882	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35235944	chr12:1896904-1896905	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2286381	chr12:1896908-1896909	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569041107	chr12:1896923-1896924	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377341763	chr12:1896938-1896939	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1044471	chr12:1896956-1896957	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs373558976	chr12:1896973-1896974	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186160725	chr12:1896986-1896987	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs147857332	chr12:1896994-1896995	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531496109	chr12:1897032-1897033	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549702604	chr12:1897034-1897035	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141510300	chr12:1897044-1897045	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7965288	chr12:1897077-1897078	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7965379	chr12:1897139-1897140	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147038940	chr12:1897160-1897161	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370236885	chr12:1897242-1897243	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555984880	chr12:1897254-1897255	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566609610	chr12:1897275-1897276	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2286380	chr12:1897284-1897285	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs34877278	chr12:1897411-1897412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111477952	chr12:1897413-1897414	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143312255	chr12:1897435-1897436	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545067188	chr12:1897456-1897457	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148347534	chr12:1897468-1897469	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568726719	chr12:1897543-1897544	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572359608	chr12:1897598-1897599	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
2	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
3	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
4	chr12:1868200-1901800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:1878600-1897800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:1879000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:1881600-1897400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:1881600-1897600	Strong transcription	Dnd41	blood
9	chr12:1881600-1897800	Strong transcription	Fetal Thymus	thymus
10	chr12:1882000-1898200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:1882600-1904800	Weak transcription	Stomach Mucosa	stomach
12	chr12:1885200-1904600	Weak transcription	Fetal Brain Male	brain
13	chr12:1885400-1897800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:1885400-1898000	Strong transcription	Primary T cells from cord blood	blood
15	chr12:1885600-1897600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr12:1885600-1902600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:1885800-1896600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:1885800-1904000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:1886000-1904200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:1886000-1905000	Weak transcription	Fetal Brain Female	brain
21	chr12:1886200-1897800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:1886200-1905400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:1886800-1897200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr12:1886800-1897600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr12:1886800-1897800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:1887000-1896800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:1887000-1897400	Strong transcription	Primary B cells from cord blood	blood
28	chr12:1887000-1897600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:1887000-1897800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:1887200-1905000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:1887600-1896400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:1887800-1899000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:1888000-1897800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:1889200-1904800	Weak transcription	Right Atrium	heart
35	chr12:1889400-1897400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:1889400-1904200	Weak transcription	Brain Germinal Matrix	brain
37	chr12:1889600-1898000	Strong transcription	GM12878-XiMat	blood
38	chr12:1889600-1904000	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:1889600-1905000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:1889800-1897600	Strong transcription	A549	lung
41	chr12:1891200-1897600	Strong transcription	K562	blood
42	chr12:1891200-1904200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:1891600-1903200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:1892200-1897800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:1892400-1897400	Strong transcription	Right Ventricle	heart
46	chr12:1892400-1897400	Strong transcription	HepG2	liver
47	chr12:1892400-1897600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:1892400-1897600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:1892400-1898000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:1892600-1896600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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