Variant report

Variant	esv3428924
Chromosome Location	chr12:83390171-83392369
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	chr12:83077655..83080172-chr12:83389847..83391869,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539051391	chr12:83390186-83390187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557780390	chr12:83390191-83390192	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138957536	chr12:83390208-83390209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534254693	chr12:83390245-83390246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78204556	chr12:83390254-83390255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115966898	chr12:83390255-83390256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554154605	chr12:83390269-83390270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190572233	chr12:83390281-83390282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76533471	chr12:83390304-83390305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578079671	chr12:83390317-83390318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75498678	chr12:83390335-83390336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147026935	chr12:83390346-83390347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528382533	chr12:83390362-83390363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141556231	chr12:83390387-83390388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546884814	chr12:83390450-83390451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369359498	chr12:83390457-83390458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184160842	chr12:83390500-83390501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529055970	chr12:83390501-83390502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188756993	chr12:83390518-83390519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191181674	chr12:83390647-83390648	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372251533	chr12:83390649-83390650	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138314273	chr12:83390675-83390676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182603043	chr12:83390698-83390699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566096600	chr12:83390746-83390747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143887730	chr12:83390764-83390765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150642843	chr12:83390769-83390770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115699264	chr12:83390806-83390807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79463717	chr12:83390839-83390840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531132053	chr12:83390844-83390845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7133958	chr12:83390876-83390877	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112853583	chr12:83390901-83390902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7307961	chr12:83390921-83390922	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs189252847	chr12:83390954-83390955	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371502314	chr12:83390955-83390956	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11115512	chr12:83390956-83390957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202229293	chr12:83390985-83390986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138885953	chr12:83391000-83391001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12423762	chr12:83391002-83391003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577410283	chr12:83391004-83391005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7304842	chr12:83391022-83391023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532898941	chr12:83391026-83391027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116737889	chr12:83391030-83391031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561952047	chr12:83391050-83391051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35747972	chr12:83391074-83391075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544053187	chr12:83391080-83391081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376402752	chr12:83391086-83391087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34720097	chr12:83391101-83391102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1968877	chr12:83391103-83391104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554829256	chr12:83391124-83391125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35386947	chr12:83391127-83391128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83358400-83397600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:83358400-83409200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:83358600-83394200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:83358600-83399600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:83358600-83409400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:83367400-83391800	Weak transcription	Small Intestine	intestine
7	chr12:83368800-83393800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:83368800-83399200	Weak transcription	Esophagus	oesophagus
9	chr12:83375600-83405600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:83377600-83400000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:83377600-83409400	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:83377800-83410200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:83378200-83391800	Weak transcription	Fetal Heart	heart
14	chr12:83378400-83394200	Weak transcription	Lung	lung
15	chr12:83378400-83409600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:83378800-83409000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:83379200-83397000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:83379800-83393200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:83380000-83394200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:83380000-83403200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:83380000-83409200	Weak transcription	Gastric	stomach
22	chr12:83380200-83397200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:83381800-83399400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:83382000-83393000	Weak transcription	Fetal Lung	lung
25	chr12:83382400-83399000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:83382600-83399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:83384000-83397000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:83384800-83391000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:83386000-83404200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:83386200-83391400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:83386200-83403600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:83386600-83394200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:83388200-83394200	Weak transcription	Fetal Stomach	stomach
34	chr12:83388400-83400800	Weak transcription	Fetal Kidney	kidney
35	chr12:83388800-83390200	Weak transcription	Fetal Intestine Small	intestine
36	chr12:83389200-83392800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:83389600-83390200	Enhancers	Pancreas	Pancrea
38	chr12:83389600-83390400	Enhancers	Fetal Intestine Large	intestine
39	chr12:83389800-83394400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:83390000-83390400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr12:83390000-83390800	Enhancers	Stomach Mucosa	stomach
42	chr12:83390000-83392000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:83390200-83390800	Enhancers	Hela-S3	cervix
44	chr12:83390200-83391000	Enhancers	Fetal Intestine Small	intestine
45	chr12:83390200-83409200	Weak transcription	Pancreas	Pancrea
46	chr12:83390400-83399200	Weak transcription	Fetal Intestine Large	intestine
47	chr12:83390800-83391800	Weak transcription	Stomach Mucosa	stomach
48	chr12:83391000-83391800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:83391000-83399400	Weak transcription	Fetal Intestine Small	intestine
50	chr12:83391400-83392600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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