Variant report

Variant	nsv512269
Chromosome Location	chr12:41027012-41029251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41018576..41021441-chr12:41028781..41031476,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141297904	chr12:41027036-41027037	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs7955293	chr12:41027038-41027039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs59015015	chr12:41027075-41027076	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567726001	chr12:41027084-41027085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs141555921	chr12:41027134-41027135	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146979694	chr12:41027150-41027151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs190578925	chr12:41027232-41027233	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571663810	chr12:41027263-41027264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539359228	chr12:41027286-41027287	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139930131	chr12:41027295-41027296	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs147623142	chr12:41027334-41027335	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs114660887	chr12:41027344-41027345	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs116540416	chr12:41027345-41027346	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555059556	chr12:41027383-41027384	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573437583	chr12:41027401-41027402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540704961	chr12:41027402-41027403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59318227	chr12:41027407-41027408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183499722	chr12:41027418-41027419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186405545	chr12:41027429-41027430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563405509	chr12:41027439-41027440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553879634	chr12:41027453-41027454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530745989	chr12:41027466-41027467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10638628	chr12:41027471-41027472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377338825	chr12:41027485-41027486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202180593	chr12:41027486-41027487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3041700	chr12:41027487-41027488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs33954467	chr12:41027488-41027489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374827592	chr12:41027489-41027490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368192894	chr12:41027490-41027491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35696594	chr12:41027491-41027492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71078259	chr12:41027507-41027508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3041701	chr12:41027516-41027517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540150014	chr12:41027537-41027538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561041463	chr12:41027599-41027600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528642299	chr12:41027625-41027626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547105692	chr12:41027658-41027659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73123168	chr12:41027661-41027662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538609282	chr12:41027674-41027675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551278633	chr12:41027678-41027679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202031894	chr12:41027679-41027680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574835024	chr12:41027681-41027682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542263448	chr12:41027687-41027688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569415636	chr12:41027688-41027689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367595889	chr12:41027698-41027699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73123171	chr12:41027710-41027711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554772493	chr12:41027711-41027712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573099454	chr12:41027726-41027727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117382398	chr12:41027729-41027730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562336992	chr12:41027742-41027743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115737674	chr12:41027754-41027755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	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
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41026600-41027400	Enhancers	Fetal Lung	lung
2	chr12:41026800-41027400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:41026800-41027400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:41027000-41027400	Flanking Active TSS	A549	lung
5	chr12:41027000-41027800	Weak transcription	Aorta	Aorta
6	chr12:41027400-41028600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:41027400-41028600	Weak transcription	Fetal Lung	lung
8	chr12:41027400-41029200	Enhancers	A549	lung
9	chr12:41027800-41028000	Enhancers	Aorta	Aorta
10	chr12:41027800-41028800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:41028000-41028400	Weak transcription	Aorta	Aorta
12	chr12:41028400-41028800	Enhancers	Aorta	Aorta
13	chr12:41028600-41029000	Enhancers	Gastric	stomach
14	chr12:41028600-41029200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:41028600-41029200	Enhancers	Fetal Kidney	kidney
16	chr12:41028600-41029400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:41028600-41029400	Enhancers	Fetal Lung	lung
18	chr12:41029000-41029200	Enhancers	Colon Smooth Muscle	Colon
19	chr12:41029200-41037000	Weak transcription	Colon Smooth Muscle	Colon

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