Variant report

Variant	esv3402343
Chromosome Location	chr12:29862735-29864933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575839333	chr12:29862751-29862752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs117031870	chr12:29862781-29862782	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs569455581	chr12:29862804-29862805	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373059985	chr12:29862816-29862817	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143044956	chr12:29862881-29862882	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567202633	chr12:29862882-29862883	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533892346	chr12:29862925-29862926	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189383650	chr12:29862935-29862936	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555348288	chr12:29862965-29862966	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573761264	chr12:29862992-29862993	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3042142	chr12:29863014-29863015	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112704970	chr12:29863017-29863018	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61743151	chr12:29863067-29863068	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556266924	chr12:29863096-29863097	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376263294	chr12:29863135-29863136	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577398850	chr12:29863260-29863261	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77240243	chr12:29863286-29863287	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114198552	chr12:29863289-29863290	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180973836	chr12:29863360-29863361	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540647559	chr12:29863361-29863362	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4032805	chr12:29863431-29863432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551736686	chr12:29863461-29863462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539864767	chr12:29863482-29863483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560889438	chr12:29863552-29863553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12231112	chr12:29863609-29863610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11050402	chr12:29863640-29863641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565014955	chr12:29863706-29863707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113235389	chr12:29863724-29863725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570061059	chr12:29863729-29863730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72420400	chr12:29863749-29863750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57218526	chr12:29863751-29863752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56981046	chr12:29863836-29863837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7485510	chr12:29863847-29863848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375390618	chr12:29863849-29863850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200029263	chr12:29863854-29863855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577866975	chr12:29863857-29863858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3042145	chr12:29863858-29863859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571381196	chr12:29863859-29863860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187359949	chr12:29863860-29863861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61925264	chr12:29863865-29863866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58819865	chr12:29863871-29863872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60759181	chr12:29863875-29863876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543021612	chr12:29863878-29863879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs58250737	chr12:29863879-29863880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58404014	chr12:29863882-29863883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113316038	chr12:29863896-29863897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545762753	chr12:29863897-29863898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58112903	chr12:29863908-29863909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111346416	chr12:29863920-29863921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398116288	chr12:29863926-29863927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:29853400-29864000	Weak transcription	Hela-S3	cervix
3	chr12:29854400-29866000	Weak transcription	HSMMtube	muscle
4	chr12:29854400-29879000	Weak transcription	Ovary	ovary
5	chr12:29854600-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:29855600-29862800	Weak transcription	Aorta	Aorta
7	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:29855800-29891200	Weak transcription	NHLF	lung
9	chr12:29858200-29862800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:29858200-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:29858200-29863000	Weak transcription	HSMM	muscle
12	chr12:29858600-29862800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:29859000-29864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:29859200-29862800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:29859200-29862800	Weak transcription	Right Ventricle	heart
16	chr12:29859200-29863200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:29859200-29867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:29859600-29862800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:29859600-29862800	Weak transcription	Brain Germinal Matrix	brain
20	chr12:29859600-29862800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:29860400-29863600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:29860800-29863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:29860800-29863000	Weak transcription	Right Atrium	heart
24	chr12:29860800-29864000	Weak transcription	Spleen	Spleen
25	chr12:29861000-29862800	Weak transcription	Psoas Muscle	Psoas
26	chr12:29861000-29863000	Weak transcription	Fetal Kidney	kidney
27	chr12:29861000-29863000	Weak transcription	Left Ventricle	heart
28	chr12:29861200-29862800	Enhancers	Stomach Smooth Muscle	stomach
29	chr12:29861400-29863400	Enhancers	Fetal Brain Female	brain
30	chr12:29861600-29862800	Weak transcription	Adipose Nuclei	Adipose
31	chr12:29861600-29862800	Enhancers	Colon Smooth Muscle	Colon
32	chr12:29861600-29863200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:29861600-29863400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:29861600-29864600	Enhancers	Fetal Muscle Leg	muscle
35	chr12:29861800-29862800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:29861800-29863400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:29862000-29862800	Enhancers	Fetal Lung	lung
38	chr12:29862000-29863400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:29862000-29863400	Enhancers	Fetal Brain Male	brain
40	chr12:29862000-29864200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:29862000-29864800	Enhancers	Fetal Stomach	stomach
42	chr12:29862000-29867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:29862200-29863200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr12:29862200-29863400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:29862200-29863400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:29862200-29863400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:29862200-29863400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:29862200-29863400	Enhancers	NHEK	skin
49	chr12:29862200-29863600	Enhancers	HMEC	breast
50	chr12:29862400-29862800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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