Variant report

Variant	esv3325324
Chromosome Location	chr12:105878622-105883020
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	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:

Extended variants
information (count: 177 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145270372	chr12:105878693-105878694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199578122	chr12:105878806-105878807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566347949	chr12:105878820-105878821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538588413	chr12:105878867-105878868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558261266	chr12:105878889-105878890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202021023	chr12:105878891-105878892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386766029	chr12:105878892-105878893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75965200	chr12:105878893-105878894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74276107	chr12:105878895-105878896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202216619	chr12:105878896-105878897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61939112	chr12:105878905-105878906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574648608	chr12:105878987-105878988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543163333	chr12:105879007-105879008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75951360	chr12:105879011-105879012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575308051	chr12:105879037-105879038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73385064	chr12:105879067-105879068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115924251	chr12:105879068-105879069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531135930	chr12:105879102-105879103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17037229	chr12:105879103-105879104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146413300	chr12:105879130-105879131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530187025	chr12:105879138-105879139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546387374	chr12:105879170-105879171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566602911	chr12:105879220-105879221	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538355602	chr12:105879224-105879225	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552180659	chr12:105879273-105879274	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149029440	chr12:105879283-105879284	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs538156123	chr12:105879284-105879285	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554874339	chr12:105879300-105879301	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs367872249	chr12:105879301-105879302	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs143094566	chr12:105879331-105879332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs148219634	chr12:105879363-105879364	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141286316	chr12:105879386-105879387	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs146971130	chr12:105879398-105879399	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs191405153	chr12:105879399-105879400	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565313744	chr12:105879401-105879402	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs535481620	chr12:105879414-105879415	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544508189	chr12:105879453-105879454	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111428897	chr12:105879476-105879477	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528174417	chr12:105879484-105879485	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs182626276	chr12:105879494-105879495	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs371346665	chr12:105879495-105879496	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112792168	chr12:105879507-105879508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138217072	chr12:105879528-105879529	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185024534	chr12:105879532-105879533	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547221192	chr12:105879561-105879562	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs143694542	chr12:105879576-105879577	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs80168912	chr12:105879591-105879592	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs554998421	chr12:105879593-105879594	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs540266321	chr12:105879634-105879635	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs549315374	chr12:105879670-105879671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105863200-105884200	Weak transcription	Right Atrium	heart
2	chr12:105869000-105878800	Weak transcription	Placenta	Placenta
3	chr12:105869200-105878800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105874400-105878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:105874400-105878800	Weak transcription	NH-A	brain
6	chr12:105874400-105879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:105874400-105879000	Weak transcription	A549	lung
8	chr12:105874400-105893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:105874600-105879200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:105874800-105878800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:105875000-105879200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:105875400-105879000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:105875400-105904400	Weak transcription	Aorta	Aorta
14	chr12:105876200-105879000	Weak transcription	HSMM	muscle
15	chr12:105876400-105879600	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:105876400-105880400	Weak transcription	Fetal Kidney	kidney
17	chr12:105876400-105881800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:105877200-105878800	Weak transcription	HSMMtube	muscle
19	chr12:105878000-105878800	Weak transcription	Adipose Nuclei	Adipose
20	chr12:105878000-105879000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:105878000-105879000	Weak transcription	Lung	lung
22	chr12:105878200-105879200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:105878200-105880800	Enhancers	Left Ventricle	heart
24	chr12:105878400-105881600	Enhancers	HUVEC	blood vessel
25	chr12:105878600-105880200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:105878800-105879200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:105878800-105879200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:105878800-105879200	Enhancers	NH-A	brain
29	chr12:105878800-105879600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:105878800-105879800	Enhancers	Spleen	Spleen
31	chr12:105878800-105879800	Enhancers	Hela-S3	cervix
32	chr12:105878800-105880000	Enhancers	Adipose Nuclei	Adipose
33	chr12:105878800-105880200	Enhancers	Placenta	Placenta
34	chr12:105878800-105880200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:105878800-105880600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:105878800-105880800	Enhancers	HSMMtube	muscle
37	chr12:105879000-105879200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:105879000-105879200	Enhancers	Psoas Muscle	Psoas
39	chr12:105879000-105879400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:105879000-105879400	Enhancers	Fetal Muscle Trunk	muscle
41	chr12:105879000-105879400	Enhancers	Lung	lung
42	chr12:105879000-105879400	Enhancers	Ovary	ovary
43	chr12:105879000-105879400	Enhancers	A549	lung
44	chr12:105879000-105879600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:105879000-105879800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:105879000-105879800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:105879000-105879800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:105879000-105879800	Enhancers	HSMM	muscle
49	chr12:105879000-105880000	Enhancers	Osteobl	bone
50	chr12:105879200-105879400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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