Variant report

Variant	esv1843214
Chromosome Location	chr12:86673989-86703959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 773 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:773 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566551901	chr12:86676625-86676626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541440447	chr12:86676660-86676661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146273766	chr12:86676679-86676680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530438703	chr12:86676691-86676692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183387293	chr12:86676710-86676711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565237608	chr12:86676714-86676715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34649355	chr12:86676763-86676764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148049148	chr12:86676765-86676766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564191989	chr12:86676798-86676799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547624866	chr12:86676886-86676887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10745408	chr12:86676912-86676913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs141846671	chr12:86676926-86676927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187335551	chr12:86676937-86676938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570005763	chr12:86676956-86676957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537054557	chr12:86676969-86676970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35691835	chr12:86676971-86676972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543963810	chr12:86676995-86676996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558850588	chr12:86677011-86677012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191699127	chr12:86677016-86677017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183913753	chr12:86677019-86677020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186653437	chr12:86677065-86677066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574570409	chr12:86677113-86677114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193118678	chr12:86677167-86677168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556800161	chr12:86677201-86677202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150606903	chr12:86677236-86677237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185486745	chr12:86677237-86677238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565227910	chr12:86677317-86677318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532714209	chr12:86677392-86677393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139808707	chr12:86677394-86677395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559553832	chr12:86677397-86677398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530254381	chr12:86677433-86677434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561050069	chr12:86677438-86677439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548619062	chr12:86677485-86677486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370475333	chr12:86677492-86677493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373065808	chr12:86677509-86677510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570061017	chr12:86677539-86677540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530924591	chr12:86677541-86677542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552653871	chr12:86677566-86677567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12309297	chr12:86677570-86677571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534952596	chr12:86677731-86677732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553322266	chr12:86677771-86677772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568216160	chr12:86677779-86677780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535292895	chr12:86677862-86677863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556973820	chr12:86677937-86677938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575282249	chr12:86677997-86677998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545391329	chr12:86678071-86678072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537673835	chr12:86678086-86678087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557359047	chr12:86678094-86678095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143581923	chr12:86678110-86678111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373189938	chr12:86678111-86678112	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86676600-86680200	Enhancers	Fetal Heart	heart
2	chr12:86677400-86677800	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:86680200-86684600	Weak transcription	Fetal Heart	heart
4	chr12:86684600-86685200	Enhancers	Fetal Heart	heart
5	chr12:86685400-86685600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:86685600-86686400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:86686400-86687000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:86687000-86687600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:86687600-86688400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:86688400-86689200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:86690000-86690600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:86690600-86698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:86690800-86692600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:86692600-86693800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:86693800-86694600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:86694800-86695400	Enhancers	Fetal Lung	lung

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