Variant report

Variant	esv32607
Chromosome Location	chr12:46087430-46097227
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46093280..46095492-chr12:46096782..46099448,2	K562	blood:
2	chr12:46092526..46097568-chr12:46119877..46124141,5	K562	blood:
3	chr12:46081437..46084404-chr12:46086225..46088555,2	K562	blood:
4	chr12:46085115..46087445-chr12:46112760..46114475,2	K562	blood:
5	chr12:46082011..46083636-chr12:46091641..46093716,2	K562	blood:
6	chr12:46093055..46096201-chr12:46096853..46099448,3	K562	blood:
7	chr12:46085906..46087446-chr12:46110360..46112448,2	K562	blood:
8	chr12:46092997..46096448-chr12:46118515..46121515,4	K562	blood:
9	chr12:46093280..46095492-chr12:46096782..46099448,2	K562	blood:
10	chr12:46093055..46096201-chr12:46096853..46099448,3	K562	blood:
11	chr12:46095651..46097823-chr12:46121185..46122785,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARID2-5	chr12:46094734-46095284	l_634_chr12:46088488-46100289_testes
2	lnc-ARID2-5	chr12:46088489-46088564	l_634_chr12:46088488-46100289_testes

No data

Variant related genes	Relation type
ENSG00000189079	chromatin interactions
ENSG00000273015	chromatin interactions

Extended variants
information (count: 368 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:368 , 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	rs531983071	chr12:46087443-46087444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544014601	chr12:46087461-46087462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372498135	chr12:46087554-46087555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529408997	chr12:46087602-46087603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183286123	chr12:46087651-46087652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187449189	chr12:46087666-46087667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527507319	chr12:46087749-46087750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6582568	chr12:46087793-46087794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551305549	chr12:46087919-46087920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566029960	chr12:46087953-46087954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570798141	chr12:46087993-46087994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192740661	chr12:46087997-46087998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184523904	chr12:46087998-46087999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6582569	chr12:46088016-46088017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555560805	chr12:46088060-46088061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149881289	chr12:46088109-46088110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534726627	chr12:46088198-46088199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555234168	chr12:46088216-46088217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552747427	chr12:46088266-46088267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577759280	chr12:46088287-46088288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545011065	chr12:46088301-46088302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558522173	chr12:46088320-46088321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576786756	chr12:46088339-46088340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1558985	chr12:46088359-46088360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144791347	chr12:46088370-46088371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1558984	chr12:46088376-46088377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386376371	chr12:46088383-46088384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3990062	chr12:46088387-46088388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72171717	chr12:46088388-46088389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1558983	chr12:46088398-46088399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541515389	chr12:46088405-46088406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73290754	chr12:46088484-46088485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs56950488	chr12:46088579-46088580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147629335	chr12:46088588-46088589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569689243	chr12:46088590-46088591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530729383	chr12:46088621-46088622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548967629	chr12:46088627-46088628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1558982	chr12:46088738-46088739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs375099284	chr12:46088740-46088741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553071748	chr12:46088776-46088777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79870765	chr12:46088790-46088791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142297026	chr12:46088791-46088792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557017888	chr12:46088797-46088798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145916283	chr12:46088818-46088819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544104354	chr12:46088836-46088837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567937091	chr12:46088838-46088839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189841791	chr12:46088863-46088864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192761767	chr12:46088868-46088869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184472321	chr12:46088870-46088871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577738985	chr12:46088883-46088884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46083800-46090400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:46083800-46090800	Weak transcription	Right Ventricle	heart
3	chr12:46084200-46088000	Weak transcription	Left Ventricle	heart
4	chr12:46087200-46087800	Weak transcription	Psoas Muscle	Psoas
5	chr12:46087800-46088400	Enhancers	Psoas Muscle	Psoas
6	chr12:46088000-46088600	Enhancers	Left Ventricle	heart
7	chr12:46088000-46089800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:46088400-46097400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:46088600-46089400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:46088800-46089200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:46088800-46089200	Enhancers	Fetal Heart	heart
12	chr12:46089000-46089600	Weak transcription	Esophagus	oesophagus
13	chr12:46089800-46091000	ZNF genes & repeats	Esophagus	oesophagus
14	chr12:46089800-46091200	ZNF genes & repeats	Dnd41	blood
15	chr12:46090200-46091200	ZNF genes & repeats	Spleen	Spleen
16	chr12:46090400-46090600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr12:46090800-46091000	Enhancers	Right Ventricle	heart
18	chr12:46091000-46091200	Weak transcription	Right Ventricle	heart
19	chr12:46091200-46092000	Weak transcription	Spleen	Spleen
20	chr12:46094800-46095600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr12:46095800-46106800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:46096200-46096400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:46096200-46097200	Enhancers	Fetal Heart	heart
24	chr12:46096400-46096600	Enhancers	Left Ventricle	heart
25	chr12:46096600-46097200	Weak transcription	Left Ventricle	heart
26	chr12:46097200-46097800	Enhancers	Left Ventricle	heart
27	chr12:46097200-46098800	Weak transcription	Fetal Heart	heart
28	chr12:46097200-46114600	Weak transcription	Primary hematopoietic stem cells	blood

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