Variant report

Variant	esv1814000
Chromosome Location	chr12:47007493-47033254
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:47018512..47021454-chr12:47022647..47024563,2	K562	blood:
2	chr12:47025079..47028602-chr12:47029579..47033419,4	MCF-7	breast:
3	chr12:47018512..47021454-chr12:47022647..47024563,3	K562	blood:
4	chr12:47004476..47006389-chr12:47019123..47021406,2	K562	blood:
5	chr12:47025079..47028602-chr12:47029579..47033419,4	MCF-7	breast:
6	chr12:47018512..47021454-chr12:47022647..47024563,2	K562	blood:
7	chr12:46657106..46659743-chr12:47006995..47009851,2	MCF-7	breast:
8	chr12:47018512..47021454-chr12:47022647..47024563,3	K562	blood:

No data

Extended variants
information (count: 978 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11183539	chr12:47007493-47007494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373231139	chr12:47007519-47007520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576593857	chr12:47007528-47007529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112032519	chr12:47007533-47007534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2111814	chr12:47007544-47007545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12579010	chr12:47007548-47007549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192720076	chr12:47007568-47007569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184588980	chr12:47007688-47007689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371138083	chr12:47007722-47007723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530666081	chr12:47007758-47007759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200188410	chr12:47007830-47007831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5797989	chr12:47007831-47007832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386376388	chr12:47007846-47007847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78957969	chr12:47007847-47007848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550681378	chr12:47007867-47007868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567498820	chr12:47007880-47007881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1986154	chr12:47007919-47007920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150457187	chr12:47007964-47007965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558962166	chr12:47007974-47007975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566655306	chr12:47008062-47008063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145511606	chr12:47008101-47008102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367555666	chr12:47008119-47008120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575216880	chr12:47008136-47008137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148861460	chr12:47008177-47008178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373880374	chr12:47008253-47008254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574558064	chr12:47008286-47008287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540480009	chr12:47008330-47008331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143438792	chr12:47008349-47008350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577513918	chr12:47008359-47008360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188749596	chr12:47008360-47008361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564909974	chr12:47008371-47008372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs137899288	chr12:47008438-47008439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77573385	chr12:47008483-47008484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560983556	chr12:47008567-47008568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192055118	chr12:47008574-47008575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530276763	chr12:47008579-47008580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142378488	chr12:47008607-47008608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35895396	chr12:47008639-47008640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73293933	chr12:47008652-47008653	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184456572	chr12:47008663-47008664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552423830	chr12:47008899-47008900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs568782389	chr12:47008923-47008924	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537864608	chr12:47008941-47008942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs189215626	chr12:47008967-47008968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568347643	chr12:47008968-47008969	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563073183	chr12:47009002-47009003	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534297527	chr12:47009020-47009021	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4768126	chr12:47009021-47009022	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577354370	chr12:47009031-47009032	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377151748	chr12:47009061-47009062	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21542898	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46998400-47010000	Weak transcription	Gastric	stomach
2	chr12:47003000-47012000	Weak transcription	Psoas Muscle	Psoas
3	chr12:47003000-47021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47003200-47025600	Weak transcription	NHEK	skin
5	chr12:47003800-47008600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:47004000-47008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:47004000-47008800	Weak transcription	Liver	Liver
8	chr12:47004000-47010000	Weak transcription	NHLF	lung
9	chr12:47004000-47010600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:47004800-47007800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea
12	chr12:47006800-47008800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:47007200-47010000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:47007200-47011600	Weak transcription	Left Ventricle	heart
15	chr12:47008600-47009000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr12:47008600-47011200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:47008800-47009000	ZNF genes & repeats	Liver	Liver
18	chr12:47008800-47009200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:47009000-47009200	Strong transcription	Liver	Liver
20	chr12:47009000-47010000	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr12:47009200-47013000	Weak transcription	Liver	Liver
22	chr12:47010000-47010200	Enhancers	NHLF	lung
23	chr12:47010000-47010600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:47010200-47010800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:47010200-47011000	Weak transcription	NHLF	lung
26	chr12:47010200-47011200	Enhancers	NHDF-Ad	bronchial
27	chr12:47010400-47010800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:47010400-47011000	Enhancers	Adipose Nuclei	Adipose
29	chr12:47010400-47011200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:47010400-47011400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:47010400-47011400	Enhancers	Osteobl	bone
32	chr12:47010600-47010800	Enhancers	Stomach Smooth Muscle	stomach
33	chr12:47010600-47011000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:47010600-47011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:47010600-47011200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:47010800-47011000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:47010800-47011000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr12:47010800-47011200	Enhancers	Rectal Smooth Muscle	rectum
39	chr12:47010800-47011200	Active TSS	Stomach Smooth Muscle	stomach
40	chr12:47011000-47011200	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr12:47011000-47011200	Enhancers	NHLF	lung
42	chr12:47011000-47011400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:47011000-47011800	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr12:47011200-47011400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr12:47011200-47011400	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr12:47011400-47011800	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr12:47011600-47011800	Enhancers	Left Ventricle	heart
48	chr12:47011800-47012000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:47017800-47018600	Enhancers	Primary T cells from cord blood	blood
50	chr12:47018000-47019000	Enhancers	Skeletal Muscle Male	skeletal muscle

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