Variant report

Variant	esv3332578
Chromosome Location	chr12:4874835-4877804
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	chr12:4877676..4880260-chr12:4884636..4887457,2	MCF-7	breast:
2	chr12:4873235..4875962-chr12:4887728..4890424,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148884306	chr12:4874837-4874838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564854726	chr12:4874866-4874867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527321206	chr12:4874869-4874870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565640093	chr12:4874901-4874902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548059057	chr12:4874913-4874914	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534335554	chr12:4874920-4874921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148062821	chr12:4874985-4874986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140857770	chr12:4874987-4874988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150198277	chr12:4875002-4875003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569930675	chr12:4875003-4875004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368720899	chr12:4875014-4875015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538717306	chr12:4875087-4875088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2018895	chr12:4875172-4875173	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577319954	chr12:4875179-4875180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534756245	chr12:4875180-4875181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554952142	chr12:4875184-4875185	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377722062	chr12:4875188-4875189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138793720	chr12:4875195-4875196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189591628	chr12:4875238-4875239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs766504	chr12:4875255-4875256	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs558938225	chr12:4875275-4875276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141936261	chr12:4875280-4875281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545106315	chr12:4875296-4875297	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181110250	chr12:4875326-4875327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs766505	chr12:4875334-4875335	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs540620693	chr12:4875406-4875407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146340381	chr12:4875444-4875445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138319012	chr12:4875475-4875476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543728810	chr12:4875530-4875531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149625944	chr12:4875561-4875562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185660358	chr12:4875566-4875567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559404730	chr12:4875610-4875611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs766506	chr12:4875615-4875616	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs545077153	chr12:4875708-4875709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565995176	chr12:4875719-4875720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528595896	chr12:4875743-4875744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189245357	chr12:4875780-4875781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181521867	chr12:4875790-4875791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565375660	chr12:4875835-4875836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536531258	chr12:4875863-4875864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531066801	chr12:4875891-4875892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144317499	chr12:4875927-4875928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187353406	chr12:4875931-4875932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112758482	chr12:4875937-4875938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558718594	chr12:4875940-4875941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572003046	chr12:4875942-4875943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142443252	chr12:4875955-4875956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554238565	chr12:4875956-4875957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192148832	chr12:4876012-4876013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7967117	chr12:4876033-4876034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:74)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4854200-4876000	Weak transcription	Fetal Brain Male	brain
2	chr12:4867200-4880200	Weak transcription	Spleen	Spleen
3	chr12:4869000-4875400	Weak transcription	Fetal Stomach	stomach
4	chr12:4869600-4875600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:4869800-4884200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:4871800-4877800	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:4872000-4875200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:4872800-4875600	Weak transcription	Adipose Nuclei	Adipose
9	chr12:4873000-4876400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:4873200-4879800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:4873200-4881800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:4873200-4889800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:4873400-4875600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:4873400-4876200	Weak transcription	Right Atrium	heart
15	chr12:4873400-4876600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:4873400-4881200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:4873400-4889400	Weak transcription	Ovary	ovary
18	chr12:4873600-4876200	Weak transcription	Brain Germinal Matrix	brain
19	chr12:4874400-4875400	Enhancers	Left Ventricle	heart
20	chr12:4874400-4875600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:4874600-4875000	Enhancers	Right Ventricle	heart
22	chr12:4874600-4881000	Weak transcription	Fetal Brain Female	brain
23	chr12:4875000-4876200	Weak transcription	Right Ventricle	heart
24	chr12:4875000-4878200	Enhancers	Fetal Muscle Leg	muscle
25	chr12:4875400-4875600	Enhancers	Fetal Stomach	stomach
26	chr12:4875400-4875600	Weak transcription	Left Ventricle	heart
27	chr12:4875400-4876000	Enhancers	Fetal Lung	lung
28	chr12:4875600-4876000	Weak transcription	Fetal Stomach	stomach
29	chr12:4875600-4876400	Enhancers	Adipose Nuclei	Adipose
30	chr12:4875600-4876800	Enhancers	Left Ventricle	heart
31	chr12:4875600-4877800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:4875600-4879400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:4875600-4881400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:4876000-4876600	Enhancers	Fetal Brain Male	brain
35	chr12:4876000-4876600	Enhancers	Fetal Stomach	stomach
36	chr12:4876000-4877600	Weak transcription	Fetal Lung	lung
37	chr12:4876200-4876600	Enhancers	Brain Germinal Matrix	brain
38	chr12:4876200-4876600	Enhancers	Fetal Heart	heart
39	chr12:4876200-4876800	Enhancers	Right Atrium	heart
40	chr12:4876200-4876800	Enhancers	Right Ventricle	heart
41	chr12:4876400-4876600	Enhancers	Fetal Muscle Trunk	muscle
42	chr12:4876400-4876600	Enhancers	Lung	lung
43	chr12:4876400-4878200	Weak transcription	Adipose Nuclei	Adipose
44	chr12:4876600-4876800	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:4876600-4876800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:4876600-4877800	Weak transcription	Fetal Heart	heart
47	chr12:4876600-4878200	Weak transcription	Fetal Brain Male	brain
48	chr12:4876600-4880400	Weak transcription	Lung	lung
49	chr12:4876600-4881400	Weak transcription	Brain Germinal Matrix	brain
50	chr12:4876800-4877800	Weak transcription	Brain Cingulate Gyrus	brain

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