Variant report

Variant	esv2755576
Chromosome Location	chr12:86139884-86147299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs564626896	chr12:86141421-86141422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149657325	chr12:86141433-86141434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190001732	chr12:86141459-86141460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7314668	chr12:86141471-86141472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181295908	chr12:86141517-86141518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527951526	chr12:86141599-86141600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11117016	chr12:86141602-86141603	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs78241181	chr12:86141614-86141615	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs145523673	chr12:86141638-86141639	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148838090	chr12:86141716-86141717	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552562862	chr12:86141741-86141742	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs367894068	chr12:86141744-86141745	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368485076	chr12:86141745-86141746	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs142621543	chr12:86141760-86141761	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538847947	chr12:86141776-86141777	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs61930015	chr12:86141777-86141778	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547583430	chr12:86141778-86141779	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4897829	chr12:86141803-86141804	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568911542	chr12:86141815-86141816	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185026587	chr12:86141827-86141828	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11117017	chr12:86141840-86141841	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569672073	chr12:86141847-86141848	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536638715	chr12:86141885-86141886	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113266091	chr12:86141903-86141904	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558232306	chr12:86141918-86141919	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs11117018	chr12:86141919-86141920	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569721117	chr12:86141959-86141960	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191201295	chr12:86141981-86141982	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572532237	chr12:86141988-86141989	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs11117019	chr12:86141992-86141993	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183874468	chr12:86142015-86142016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531735475	chr12:86142016-86142017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114675787	chr12:86142018-86142019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188859569	chr12:86142023-86142024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370345298	chr12:86142026-86142027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547887081	chr12:86142061-86142062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368925793	chr12:86142087-86142088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527308871	chr12:86142090-86142091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529838005	chr12:86142099-86142100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548509404	chr12:86142114-86142115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574357077	chr12:86142146-86142147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4341613	chr12:86142152-86142153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537058139	chr12:86142156-86142157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535555862	chr12:86142161-86142162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570233285	chr12:86142174-86142175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534446960	chr12:86142194-86142195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552641049	chr12:86142228-86142229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11117020	chr12:86142237-86142238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200329690	chr12:86142301-86142302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555254740	chr12:86142325-86142326	Weak transcription Enhancers	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86141400-86141600	Enhancers	Adipose Nuclei	Adipose
2	chr12:86141400-86142000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:86141400-86142200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:86141400-86142200	Enhancers	HUVEC	blood vessel
5	chr12:86141400-86142400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:86141600-86142000	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:86141600-86142000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr12:86141600-86142000	Enhancers	Fetal Brain Male	brain
9	chr12:86141600-86142200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:86141600-86142200	Enhancers	Fetal Lung	lung
11	chr12:86141600-86142800	Enhancers	Fetal Intestine Large	intestine
12	chr12:86141600-86142800	Enhancers	Fetal Intestine Small	intestine
13	chr12:86142000-86142200	Enhancers	Adipose Nuclei	Adipose
14	chr12:86142200-86145600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:86142400-86145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:86145400-86145800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:86145400-86145800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:86145600-86146000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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