Variant report

Variant	esv3486052
Chromosome Location	chr12:41027904-41029142
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: 47 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1105121	chr12:41027917-41027918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1105120	chr12:41027954-41027955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11177529	chr12:41027960-41027961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532555332	chr12:41027979-41027980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550734120	chr12:41028031-41028032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376481575	chr12:41028036-41028037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367889767	chr12:41028089-41028090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138683526	chr12:41028112-41028113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548465912	chr12:41028134-41028135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78420988	chr12:41028157-41028158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149350813	chr12:41028162-41028163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552663226	chr12:41028174-41028175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571285882	chr12:41028266-41028267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538702495	chr12:41028271-41028272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7309546	chr12:41028338-41028339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182655074	chr12:41028341-41028342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186628932	chr12:41028408-41028409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554856204	chr12:41028422-41028423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111679107	chr12:41028442-41028443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540394417	chr12:41028469-41028470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565075231	chr12:41028534-41028535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376599799	chr12:41028586-41028587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77141631	chr12:41028602-41028603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191472429	chr12:41028608-41028609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529998119	chr12:41028624-41028625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113917326	chr12:41028640-41028641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376977886	chr12:41028641-41028642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200141029	chr12:41028651-41028652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538529083	chr12:41028652-41028653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566799038	chr12:41028656-41028657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527960546	chr12:41028678-41028679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376892400	chr12:41028687-41028688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556805763	chr12:41028724-41028725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183177117	chr12:41028772-41028773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571762639	chr12:41028774-41028775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571019900	chr12:41028826-41028827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538394474	chr12:41028827-41028828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556975805	chr12:41028876-41028877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187809102	chr12:41028894-41028895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568763214	chr12:41028906-41028907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547471790	chr12:41029010-41029011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538776318	chr12:41029029-41029030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73108906	chr12:41029037-41029038	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573209958	chr12:41029038-41029039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193049204	chr12:41029047-41029048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558518560	chr12:41029093-41029094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554202775	chr12:41029125-41029126	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:13 , 50 per page) page: 1

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

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