Variant report

Variant	esv2762994
Chromosome Location	chr12:83783139-83785486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83078627..83080390-chr12:83781749..83784378,2	MCF-7	breast:
2	chr12:83079542..83080051-chr12:83782752..83783696,2	MCF-7	breast:
3	chr12:83782814..83783717-chr20:57797390..57797949,2	MCF-7	breast:
4	chr12:82920697..82921255-chr12:83783256..83783780,2	MCF-7	breast:
5	chr12:83079105..83081641-chr12:83780765..83784408,3	MCF-7	breast:
6	chr12:83778698..83781500-chr12:83783078..83784583,2	K562	blood:
7	chr12:83398128..83399066-chr12:83782720..83783715,3	K562	blood:
8	chr12:83079259..83080112-chr12:83782817..83783839,5	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC59-7	chr12:83782251-83783300	ucscGeneNc_uc001szx_2

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4882384	chr12:83783139-83783140	Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183609807	chr12:83783174-83783175	Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs187389044	chr12:83783180-83783181	Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs192287792	chr12:83783191-83783192	Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs571639247	chr12:83783223-83783224	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs183666652	chr12:83783244-83783245	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs540296937	chr12:83783264-83783265	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs561689053	chr12:83783283-83783284	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs537456089	chr12:83783320-83783321	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148713691	chr12:83783324-83783325	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569525451	chr12:83783353-83783354	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370077926	chr12:83783381-83783382	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551932357	chr12:83783411-83783412	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111899117	chr12:83783421-83783422	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534046491	chr12:83783430-83783431	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12309704	chr12:83783447-83783448	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113642515	chr12:83783459-83783460	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191158928	chr12:83783505-83783506	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557019027	chr12:83783515-83783516	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146815385	chr12:83783594-83783595	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545712824	chr12:83783597-83783598	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553710435	chr12:83783624-83783625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182623183	chr12:83783642-83783643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573047390	chr12:83783664-83783665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547418965	chr12:83783666-83783667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540333954	chr12:83783668-83783669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114654619	chr12:83783690-83783691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528938939	chr12:83783700-83783701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140633681	chr12:83783717-83783718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs5799624	chr12:83783800-83783801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563219651	chr12:83783825-83783826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368239601	chr12:83783826-83783827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200390267	chr12:83783833-83783834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147240789	chr12:83783896-83783897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371948596	chr12:83783928-83783929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111675910	chr12:83783960-83783961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142591460	chr12:83783980-83783981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192983756	chr12:83784041-83784042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185266926	chr12:83784042-83784043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189800495	chr12:83784059-83784060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527836007	chr12:83784084-83784085	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549103810	chr12:83784107-83784108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567416803	chr12:83784108-83784109	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537879495	chr12:83784113-83784114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34566521	chr12:83784134-83784135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71875978	chr12:83784135-83784136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550131915	chr12:83784141-83784142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs386377175	chr12:83784144-83784145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71309533	chr12:83784155-83784156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs193263525	chr12:83784241-83784242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83782800-83783200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:83782800-83783200	Enhancers	Pancreas	Pancrea
3	chr12:83783000-83783600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:83783000-83783600	Enhancers	Liver	Liver
5	chr12:83783400-83783600	Enhancers	Gastric	stomach

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