Variant report

Variant	esv2760249
Chromosome Location	chr12:32449115-32455620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32455258..32455874-chr12:32465064..32465668,2	MCF-7	breast:
2	chr12:32213140..32214101-chr12:32454772..32455510,3	MCF-7	breast:
3	chr12:32445285..32448075-chr12:32450808..32453523,2	MCF-7	breast:
4	chr12:32260676..32263344-chr12:32452464..32455287,2	MCF-7	breast:
5	chr12:32447000..32449614-chr12:32452651..32455475,2	MCF-7	breast:
6	chr12:32447000..32449614-chr12:32452651..32455475,2	MCF-7	breast:

Extended variants
information (count: 258 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181295348	chr12:32449156-32449157	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185656416	chr12:32449157-32449158	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574790066	chr12:32449170-32449171	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373702037	chr12:32449180-32449181	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373003647	chr12:32449185-32449186	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373840049	chr12:32449189-32449190	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566363432	chr12:32449190-32449191	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373796519	chr12:32449191-32449192	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145820427	chr12:32449216-32449217	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369017061	chr12:32449223-32449224	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1239580	chr12:32449228-32449229	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190021224	chr12:32449240-32449241	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1239579	chr12:32449244-32449245	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs182180433	chr12:32449253-32449254	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567124129	chr12:32449254-32449255	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1239578	chr12:32449292-32449293	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs374257659	chr12:32449316-32449317	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569977337	chr12:32449328-32449329	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187606350	chr12:32449329-32449330	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192010904	chr12:32449365-32449366	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565889280	chr12:32449373-32449374	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535084395	chr12:32449391-32449392	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377644055	chr12:32449393-32449394	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574718222	chr12:32449404-32449405	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183936820	chr12:32449412-32449413	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1239577	chr12:32449437-32449438	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs557511267	chr12:32449438-32449439	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577512784	chr12:32449446-32449447	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141416153	chr12:32449482-32449483	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572782396	chr12:32449515-32449516	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1239576	chr12:32449599-32449600	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540704850	chr12:32449608-32449609	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188388168	chr12:32449626-32449627	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79877809	chr12:32449643-32449644	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs191915413	chr12:32449678-32449679	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569556494	chr12:32449696-32449697	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs532409971	chr12:32449732-32449733	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150840324	chr12:32449748-32449749	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs565852429	chr12:32449832-32449833	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs561990868	chr12:32449895-32449896	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs61929079	chr12:32449921-32449922	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577338261	chr12:32449948-32449949	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375718456	chr12:32449950-32449951	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs139314914	chr12:32449992-32449993	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs182681412	chr12:32450104-32450105	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs76495999	chr12:32450112-32450113	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs543960697	chr12:32450151-32450152	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs56235810	chr12:32450157-32450158	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187009184	chr12:32450188-32450189	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149922919	chr12:32450211-32450212	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32427000-32458600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:32427000-32459400	Weak transcription	Aorta	Aorta
3	chr12:32427000-32463000	Weak transcription	NHLF	lung
4	chr12:32427200-32463000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:32427600-32454400	Weak transcription	Primary B cells from cord blood	blood
6	chr12:32438200-32449600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:32438800-32449600	Weak transcription	Fetal Brain Female	brain
8	chr12:32440200-32458600	Weak transcription	Thymus	Thymus
9	chr12:32442400-32451800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:32443400-32461000	Weak transcription	Primary T cells from cord blood	blood
11	chr12:32443600-32449400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:32443600-32454000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:32443600-32458600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:32443600-32458600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:32443600-32458600	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:32443600-32458600	Weak transcription	NH-A	brain
17	chr12:32443600-32458800	Weak transcription	HMEC	breast
18	chr12:32443600-32461200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:32443600-32463200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:32443600-32465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:32443800-32449600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:32443800-32450800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:32443800-32451800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:32443800-32451800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:32443800-32452000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:32443800-32452200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:32443800-32458400	Weak transcription	HSMM	muscle
28	chr12:32443800-32458600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:32443800-32458600	Weak transcription	Ovary	ovary
30	chr12:32443800-32460200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:32443800-32464600	Weak transcription	NHDF-Ad	bronchial
32	chr12:32443800-32464800	Weak transcription	Brain Substantia Nigra	brain
33	chr12:32443800-32480400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:32444000-32460600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:32444200-32465000	Weak transcription	Hela-S3	cervix
36	chr12:32445200-32456000	Weak transcription	Dnd41	blood
37	chr12:32445200-32458800	Weak transcription	Fetal Stomach	stomach
38	chr12:32445400-32464000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:32445600-32458600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:32445600-32463600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:32445800-32464800	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:32446000-32461600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:32446600-32449200	Strong transcription	Osteobl	bone
44	chr12:32446800-32449200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:32447000-32463000	Weak transcription	Brain Germinal Matrix	brain
46	chr12:32447200-32449600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:32447200-32449600	Weak transcription	Esophagus	oesophagus
48	chr12:32447400-32463000	Weak transcription	Fetal Thymus	thymus
49	chr12:32447600-32465000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:32447800-32458600	Weak transcription	H1 Cell Line	embryonic stem cell

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