Variant report

Variant	esv1809322
Chromosome Location	chr12:42682065-42699107
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:42691640..42695316-chr12:42718541..42721156,4	MCF-7	breast:
2	chr12:42656814..42658836-chr12:42692497..42694182,2	K562	blood:
3	chr12:42690670..42692554-chr12:42699128..42701170,2	K562	blood:
4	chr12:42631388..42633488-chr12:42697590..42700253,2	K562	blood:
5	chr12:42693508..42695062-chr12:42718733..42720432,2	K562	blood:
6	chr12:42694959..42697178-chr12:42707287..42709535,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDZRN4-3	chr12:42683299-42683400	NONHSAT027768
2	lnc-PDZRN4-3	chr12:42682122-42682305	NONHSAT027768

No data

Variant related genes	Relation type
ENSG00000134283	chromatin interactions
ENSG00000015153	chromatin interactions
ENSG00000139168	chromatin interactions

Extended variants
information (count: 364 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548950178	chr12:42682122-42682123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs568304094	chr12:42682131-42682132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs535735060	chr12:42682181-42682182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs74078007	chr12:42682195-42682196	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs188737847	chr12:42682197-42682198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs539557071	chr12:42682213-42682214	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs12366848	chr12:42682215-42682216	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs150799148	chr12:42682219-42682220	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576185083	chr12:42682237-42682238	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs543480539	chr12:42682248-42682249	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs373021357	chr12:42682255-42682256	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182648196	chr12:42682262-42682263	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs200480969	chr12:42682281-42682282	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs12371762	chr12:42682351-42682352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs529560712	chr12:42682367-42682368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559709752	chr12:42682399-42682400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112457323	chr12:42682413-42682414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113547377	chr12:42682490-42682491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563473548	chr12:42682503-42682504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530901609	chr12:42682505-42682506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549155384	chr12:42682507-42682508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114889690	chr12:42682528-42682529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529182805	chr12:42682547-42682548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547636309	chr12:42682565-42682566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191464094	chr12:42682572-42682573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539672294	chr12:42682577-42682578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61924344	chr12:42682586-42682587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs569810961	chr12:42682594-42682595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537142530	chr12:42682607-42682608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111265606	chr12:42682609-42682610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7306744	chr12:42682611-42682612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs573544773	chr12:42682656-42682657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535027679	chr12:42682667-42682668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553653818	chr12:42682675-42682676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185648942	chr12:42682722-42682723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190225784	chr12:42682723-42682724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569968778	chr12:42682725-42682726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199519908	chr12:42682727-42682728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193257270	chr12:42682764-42682765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562856150	chr12:42682777-42682778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549032657	chr12:42683344-42683345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567225953	chr12:42683350-42683351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs189140038	chr12:42683358-42683359	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs532009055	chr12:42685237-42685238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138724709	chr12:42685294-42685295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555218256	chr12:42685352-42685353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371202733	chr12:42685353-42685354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74078011	chr12:42690624-42690625	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529956263	chr12:42690629-42690630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs533192211	chr12:42690712-42690713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42682200-42682800	Enhancers	Placenta	Placenta
2	chr12:42685200-42685400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:42690600-42690800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:42690800-42706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:42692000-42692400	Enhancers	GM12878-XiMat	blood
6	chr12:42692000-42692600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:42692000-42692800	Enhancers	HUVEC	blood vessel
8	chr12:42692400-42693000	Flanking Active TSS	GM12878-XiMat	blood
9	chr12:42692400-42693600	Enhancers	HepG2	liver
10	chr12:42692800-42693400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:42692800-42693800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:42692800-42694000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:42693000-42693400	Active TSS	GM12878-XiMat	blood
14	chr12:42693000-42693800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:42693200-42693600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:42693200-42693800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:42693200-42694000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:42693400-42693600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:42693400-42693800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:42693400-42693800	Enhancers	Osteobl	bone
21	chr12:42693400-42694000	Enhancers	A549	lung
22	chr12:42693400-42694000	Flanking Active TSS	GM12878-XiMat	blood
23	chr12:42693600-42693800	Enhancers	K562	blood
24	chr12:42693600-42694000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:42693600-42694000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:42693600-42706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:42693600-42719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:42693800-42694000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:42693800-42695800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:42693800-42705600	Weak transcription	Osteobl	bone
31	chr12:42693800-42708400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:42694000-42695200	Enhancers	GM12878-XiMat	blood
33	chr12:42694000-42705000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:42694000-42706800	Weak transcription	A549	lung
35	chr12:42694000-42707000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:42694200-42695200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:42694600-42695600	Weak transcription	K562	blood
38	chr12:42694800-42696000	Enhancers	Fetal Muscle Leg	muscle
39	chr12:42695200-42695800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:42695200-42710600	Weak transcription	GM12878-XiMat	blood
41	chr12:42695600-42696200	Enhancers	K562	blood
42	chr12:42695600-42714800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:42695800-42696400	Active TSS	HepG2	liver
44	chr12:42695800-42705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:42696200-42709000	Weak transcription	K562	blood
46	chr12:42696200-42718800	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:42696400-42697400	Enhancers	HepG2	liver
48	chr12:42696600-42697200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:42696800-42697000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr12:42696800-42697200	ZNF genes & repeats	Ovary	ovary

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