Variant report

Variant	esv3354598
Chromosome Location	chr12:42696885-42701283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42690670..42692554-chr12:42699128..42701170,2	K562	blood:
2	chr12:42694959..42697178-chr12:42707287..42709535,2	MCF-7	breast:
3	chr12:42631388..42633488-chr12:42697590..42700253,2	K562	blood:
4	chr12:42699267..42702143-chr9:114503405..114505565,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134283	chromatin interactions
ENSG00000015153	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 57 )

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	rs182092587	chr12:42696901-42696902	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540697730	chr12:42696907-42696908	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144796479	chr12:42696918-42696919	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559593228	chr12:42696920-42696921	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185387640	chr12:42696944-42696945	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566200575	chr12:42696958-42696959	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532881944	chr12:42696963-42696964	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190932941	chr12:42697023-42697024	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569532103	chr12:42697036-42697037	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537374646	chr12:42697057-42697058	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71459066	chr12:42697092-42697093	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34797888	chr12:42697098-42697099	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397933539	chr12:42697102-42697103	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78720876	chr12:42697155-42697156	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75222547	chr12:42697183-42697184	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371698249	chr12:42697189-42697190	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552032191	chr12:42697220-42697221	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183509499	chr12:42697231-42697232	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188322539	chr12:42697250-42697251	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369700348	chr12:42697268-42697269	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543052246	chr12:42697285-42697286	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545157993	chr12:42697386-42697387	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73283790	chr12:42697396-42697397	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74078013	chr12:42697397-42697398	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543009101	chr12:42697501-42697502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140170573	chr12:42697515-42697516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193196494	chr12:42697603-42697604	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182989338	chr12:42697612-42697613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559272974	chr12:42697619-42697620	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs116724040	chr12:42697629-42697630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551165750	chr12:42697651-42697652	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563365610	chr12:42697665-42697666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs530437861	chr12:42697717-42697718	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548525734	chr12:42697737-42697738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369833841	chr12:42697755-42697756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs188080170	chr12:42697822-42697823	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563115775	chr12:42697837-42697838	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571728038	chr12:42697847-42697848	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112530889	chr12:42697859-42697860	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs111276857	chr12:42697872-42697873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113120614	chr12:42697880-42697881	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs539196411	chr12:42697931-42697932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs112509376	chr12:42698010-42698011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11181410	chr12:42698032-42698033	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs529912958	chr12:42698086-42698087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs150947187	chr12:42698095-42698096	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs140785751	chr12:42698097-42698098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs554999607	chr12:42698117-42698118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs34639867	chr12:42698224-42698225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs574022780	chr12:42698239-42698240	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42690800-42706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:42693600-42706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:42693600-42719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:42693800-42705600	Weak transcription	Osteobl	bone
5	chr12:42693800-42708400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:42694000-42705000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:42694000-42706800	Weak transcription	A549	lung
8	chr12:42694000-42707000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:42695200-42710600	Weak transcription	GM12878-XiMat	blood
10	chr12:42695600-42714800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:42695800-42705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:42696200-42709000	Weak transcription	K562	blood
13	chr12:42696200-42718800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:42696400-42697400	Enhancers	HepG2	liver
15	chr12:42696600-42697200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:42696800-42697000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
17	chr12:42696800-42697200	ZNF genes & repeats	Ovary	ovary
18	chr12:42696800-42697400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr12:42696800-42707000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:42697000-42697600	Weak transcription	Pancreas	Pancrea
21	chr12:42697000-42718800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:42697200-42704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:42697200-42710600	Weak transcription	Ovary	ovary
24	chr12:42697400-42703000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:42697400-42718000	Weak transcription	HepG2	liver
26	chr12:42698800-42706800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:42699400-42706800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:42699600-42718800	Weak transcription	HUVEC	blood vessel
29	chr12:42699800-42718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:42700000-42705200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:42700800-42716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:42701000-42706800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:42701200-42718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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