Variant report

Variant	esv3378364
Chromosome Location	chr12:86690521-86695319
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs528296453	chr12:86690524-86690525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546366615	chr12:86690534-86690535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139498310	chr12:86690537-86690538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs567864518	chr12:86690545-86690546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535063598	chr12:86690551-86690552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs556574999	chr12:86690592-86690593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568530758	chr12:86690631-86690632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537318596	chr12:86690632-86690633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369666539	chr12:86690685-86690686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112787742	chr12:86690758-86690759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531682940	chr12:86690814-86690815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570522370	chr12:86690823-86690824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77473899	chr12:86690839-86690840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541652121	chr12:86690867-86690868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111731115	chr12:86690897-86690898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192406503	chr12:86690908-86690909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575020260	chr12:86690952-86690953	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149725293	chr12:86690957-86690958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563643840	chr12:86690969-86690970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183798802	chr12:86690975-86690976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545737233	chr12:86690992-86690993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373778939	chr12:86691114-86691115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73182000	chr12:86691115-86691116	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372869415	chr12:86691116-86691117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76219825	chr12:86691135-86691136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561982746	chr12:86691173-86691174	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147818430	chr12:86691253-86691254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374704559	chr12:86691276-86691277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188231812	chr12:86691336-86691337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528923953	chr12:86691407-86691408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550284854	chr12:86691425-86691426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192952702	chr12:86691474-86691475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539428384	chr12:86691484-86691485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184554356	chr12:86691553-86691554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571171128	chr12:86691554-86691555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114524555	chr12:86691586-86691587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560306769	chr12:86691617-86691618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553569165	chr12:86691637-86691638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141474740	chr12:86691680-86691681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535903188	chr12:86691702-86691703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145294880	chr12:86691715-86691716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570652099	chr12:86691765-86691766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371141448	chr12:86691776-86691777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147628945	chr12:86691786-86691787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11103916	chr12:86691825-86691826	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372511401	chr12:86691837-86691838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375753962	chr12:86691903-86691904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143780060	chr12:86691917-86691918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370923369	chr12:86691921-86691922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573127906	chr12:86691953-86691954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86690000-86690600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:86690600-86698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:86690800-86692600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:86692600-86693800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:86693800-86694600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:86694800-86695400	Enhancers	Fetal Lung	lung

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