Variant report

Variant	esv3360587
Chromosome Location	chr12:66461335-66464633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 219 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576975189	chr12:66461360-66461361	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572964043	chr12:66461364-66461365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545657933	chr12:66461372-66461373	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187140633	chr12:66461392-66461393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563184477	chr12:66461420-66461421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191435145	chr12:66461584-66461585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551801823	chr12:66461633-66461634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78214230	chr12:66461671-66461672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527882376	chr12:66461716-66461717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149477561	chr12:66461728-66461729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77453242	chr12:66461730-66461731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575294035	chr12:66461731-66461732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536389593	chr12:66461739-66461740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183644700	chr12:66461757-66461758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569982238	chr12:66461764-66461765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538991491	chr12:66461780-66461781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558914538	chr12:66461781-66461782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190700341	chr12:66461843-66461844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534822910	chr12:66461859-66461860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181987439	chr12:66461877-66461878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12427038	chr12:66461902-66461903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190135345	chr12:66461945-66461946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12826980	chr12:66461979-66461980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12827140	chr12:66462013-66462014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571099863	chr12:66462017-66462018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181815606	chr12:66462174-66462175	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs28972359	chr12:66462183-66462184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189940315	chr12:66462208-66462209	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs28971927	chr12:66462217-66462218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180889532	chr12:66462221-66462222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28970452	chr12:66462236-66462237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28971679	chr12:66462237-66462238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184958591	chr12:66462242-66462243	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs190933805	chr12:66462243-66462244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576784021	chr12:66462251-66462252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551344540	chr12:66462278-66462279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367672663	chr12:66462282-66462283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375407739	chr12:66462291-66462292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370819670	chr12:66462306-66462307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565245837	chr12:66462308-66462309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369133955	chr12:66462313-66462314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373806416	chr12:66462342-66462343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535741992	chr12:66462371-66462372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528015805	chr12:66462378-66462379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547678916	chr12:66462386-66462387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561172128	chr12:66462403-66462404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530296523	chr12:66462405-66462406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184038378	chr12:66462409-66462410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371351343	chr12:66462412-66462413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371275996	chr12:66462413-66462414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66459400-66461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:66460000-66461400	Flanking Active TSS	GM12878-XiMat	blood
3	chr12:66460200-66461400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:66460800-66461400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:66460800-66464600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:66460800-66465200	Weak transcription	Primary B cells from cord blood	blood
7	chr12:66460800-66466000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:66461000-66464600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:66461200-66464800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:66461200-66464800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:66461200-66465200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:66461400-66464200	Weak transcription	GM12878-XiMat	blood
13	chr12:66461400-66465000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:66461600-66465200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:66464200-66465400	Enhancers	Ovary	ovary
16	chr12:66464200-66465400	Enhancers	GM12878-XiMat	blood
17	chr12:66464600-66464800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:66464600-66467000	Enhancers	Primary monocytes fromperipheralblood	blood

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