Variant report

Variant	esv3404073
Chromosome Location	chr12:45184135-45186033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140193397	chr12:45184142-45184143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142445361	chr12:45184169-45184170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150518466	chr12:45184238-45184239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188407285	chr12:45184247-45184248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139457737	chr12:45184282-45184283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180775433	chr12:45184284-45184285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185732605	chr12:45184290-45184291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55945138	chr12:45184310-45184311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181940847	chr12:45184351-45184352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186977405	chr12:45184382-45184383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6582516	chr12:45184385-45184386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181248286	chr12:45184388-45184389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11611031	chr12:45184433-45184434	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547763320	chr12:45184439-45184440	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149705056	chr12:45184452-45184453	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532155673	chr12:45184471-45184472	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368996311	chr12:45184492-45184493	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548609391	chr12:45184502-45184503	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371309668	chr12:45184509-45184510	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11182681	chr12:45184535-45184536	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552666871	chr12:45184554-45184555	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147798017	chr12:45184556-45184557	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141184012	chr12:45184584-45184585	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542839172	chr12:45184625-45184626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568353645	chr12:45184655-45184656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558958824	chr12:45184792-45184793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535330829	chr12:45184802-45184803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377447703	chr12:45184831-45184832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201689169	chr12:45184848-45184849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375549890	chr12:45184861-45184862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138810676	chr12:45184863-45184864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199949841	chr12:45184864-45184865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528766468	chr12:45184865-45184866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55709710	chr12:45184869-45184870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9668427	chr12:45184871-45184872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7966126	chr12:45184873-45184874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368286718	chr12:45184878-45184879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371450408	chr12:45184880-45184881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12423450	chr12:45184881-45184882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7966138	chr12:45184891-45184892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11611511	chr12:45184892-45184893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11610115	chr12:45184893-45184894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370502419	chr12:45184894-45184895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201412114	chr12:45184895-45184896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55982324	chr12:45184904-45184905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12826433	chr12:45184906-45184907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151033441	chr12:45184907-45184908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182812320	chr12:45184915-45184916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185797175	chr12:45184918-45184919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11182682	chr12:45184924-45184925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Lung cancer	18438408	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45151800-45209200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:45153600-45185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:45157000-45205600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45168200-45189000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45173200-45210200	Weak transcription	Fetal Brain Female	brain
6	chr12:45174600-45205600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:45182200-45184400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:45183200-45184200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45183200-45199600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:45184200-45184600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:45184400-45184800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:45184600-45187400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:45184800-45194600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links