Variant report

Variant	esv3486219
Chromosome Location	chr12:41494541-41517945
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	chr12:41495512..41497146-chr5:132296285..132299181,2	MCF-7	breast:

Extended variants
information (count: 851 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:851 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536190397	chr12:41494546-41494547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545956666	chr12:41494550-41494551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192527831	chr12:41494553-41494554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566087345	chr12:41494590-41494591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35217793	chr12:41494669-41494670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551188799	chr12:41494746-41494747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558307132	chr12:41494755-41494756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554817385	chr12:41494841-41494842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562409935	chr12:41494852-41494853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544061197	chr12:41494897-41494898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184386996	chr12:41494938-41494939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190500982	chr12:41494943-41494944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541728272	chr12:41494980-41494981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193122987	chr12:41495044-41495045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527308390	chr12:41495053-41495054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76043364	chr12:41495084-41495085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79294278	chr12:41495214-41495215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184797512	chr12:41495223-41495224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550104058	chr12:41495330-41495331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188874110	chr12:41495339-41495340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181673185	chr12:41495351-41495352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202139684	chr12:41495352-41495353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185447239	chr12:41495358-41495359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113148203	chr12:41495360-41495361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566052448	chr12:41495373-41495374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576821915	chr12:41495385-41495386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79925904	chr12:41495394-41495395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558217469	chr12:41495440-41495441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189573718	chr12:41495531-41495532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114283021	chr12:41495537-41495538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs396673	chr12:41495552-41495553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559654848	chr12:41495563-41495564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146430780	chr12:41495637-41495638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180705367	chr12:41495658-41495659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140886929	chr12:41495671-41495672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369960361	chr12:41495737-41495738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77710071	chr12:41495803-41495804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563908426	chr12:41495826-41495827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545381966	chr12:41495834-41495835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114301032	chr12:41495842-41495843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531261139	chr12:41495851-41495852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376211248	chr12:41495861-41495862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35925992	chr12:41495866-41495867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533581884	chr12:41495873-41495874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543514200	chr12:41495898-41495899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530971793	chr12:41495980-41495981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562106133	chr12:41496004-41496005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529510655	chr12:41496005-41496006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150125246	chr12:41496041-41496042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186011193	chr12:41496073-41496074	Enhancers	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41494000-41495400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:41494400-41494600	Enhancers	Lung	lung
3	chr12:41494600-41495200	Weak transcription	Pancreas	Pancrea
4	chr12:41495400-41496800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:41496800-41497800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:41496800-41498000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:41497600-41498000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:41497600-41498000	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:41497800-41498400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:41498000-41501400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:41498000-41502000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:41498400-41502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:41498800-41500200	Weak transcription	Pancreas	Pancrea
14	chr12:41500200-41500400	ZNF genes & repeats	Pancreas	Pancrea
15	chr12:41500400-41500600	Enhancers	Pancreas	Pancrea
16	chr12:41501400-41502400	Enhancers	Fetal Stomach	stomach
17	chr12:41501400-41503400	Enhancers	Fetal Brain Male	brain
18	chr12:41501400-41503400	Enhancers	Rectal Smooth Muscle	rectum
19	chr12:41501400-41503600	Enhancers	Colon Smooth Muscle	Colon
20	chr12:41501600-41502400	Enhancers	Stomach Smooth Muscle	stomach
21	chr12:41501800-41502400	Enhancers	Aorta	Aorta
22	chr12:41501800-41502400	Enhancers	Ovary	ovary
23	chr12:41501800-41502600	Enhancers	Fetal Lung	lung
24	chr12:41502000-41502200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:41502000-41502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:41502200-41502600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:41502200-41503600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:41503200-41503400	Enhancers	Aorta	Aorta
29	chr12:41503400-41512600	Weak transcription	Fetal Brain Male	brain
30	chr12:41506600-41508400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:41512600-41514200	Enhancers	Fetal Brain Male	brain
32	chr12:41512600-41514600	Enhancers	Fetal Brain Female	brain
33	chr12:41513000-41514400	Enhancers	Brain Germinal Matrix	brain
34	chr12:41513600-41514400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:41514000-41514600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:41514200-41516800	Weak transcription	Fetal Brain Male	brain
37	chr12:41514600-41516800	Weak transcription	Fetal Brain Female	brain
38	chr12:41515200-41515800	Enhancers	Colon Smooth Muscle	Colon
39	chr12:41515400-41515800	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:41515800-41516800	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:41515800-41516800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:41516800-41517000	Enhancers	Colon Smooth Muscle	Colon
43	chr12:41516800-41517000	Enhancers	Fetal Brain Male	brain
44	chr12:41516800-41517000	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:41516800-41517200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:41516800-41517200	Enhancers	Fetal Brain Female	brain
47	chr12:41517000-41517400	Weak transcription	Fetal Brain Male	brain
48	chr12:41517000-41517600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:41517400-41517800	Enhancers	Fetal Brain Male	brain
50	chr12:41517600-41517800	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links