Variant report

Variant	esv3372729
Chromosome Location	chr12:20778969-20779301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544833808	chr12:20778971-20778972	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193262019	chr12:20778984-20778985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183650658	chr12:20778985-20778986	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78587465	chr12:20779008-20779009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74066218	chr12:20779020-20779021	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11045344	chr12:20779078-20779079	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs544051585	chr12:20779127-20779128	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188746376	chr12:20779136-20779137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529887469	chr12:20779156-20779157	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540099749	chr12:20779165-20779166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71446704	chr12:20779193-20779194	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111603096	chr12:20779201-20779202	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546703728	chr12:20779222-20779223	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560207649	chr12:20779260-20779261	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149816543	chr12:20779264-20779265	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552319408	chr12:20779301-20779302	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20756200-20780200	Weak transcription	Fetal Stomach	stomach
2	chr12:20756200-20784400	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:20761400-20781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:20761400-20784200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:20763000-20780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:20765200-20781400	Weak transcription	HUVEC	blood vessel
7	chr12:20765800-20782000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:20766600-20780400	Weak transcription	Aorta	Aorta
9	chr12:20766600-20787800	Weak transcription	Right Ventricle	heart
10	chr12:20766600-20805000	Strong transcription	Hela-S3	cervix
11	chr12:20767600-20781800	Weak transcription	Ovary	ovary
12	chr12:20767600-20787800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:20767800-20782800	Weak transcription	Fetal Kidney	kidney
14	chr12:20768000-20813600	Weak transcription	Colonic Mucosa	Colon
15	chr12:20768600-20782600	Weak transcription	NH-A	brain
16	chr12:20769400-20779400	Weak transcription	Fetal Intestine Small	intestine
17	chr12:20769800-20781200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:20769800-20781200	Weak transcription	Osteobl	bone
19	chr12:20769800-20781800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:20769800-20787200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:20773200-20780600	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:20773600-20779800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:20774000-20810800	Weak transcription	Placenta	Placenta
24	chr12:20775400-20782600	Weak transcription	Left Ventricle	heart
25	chr12:20775800-20781400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:20777800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:20778000-20779400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:20778200-20779800	Weak transcription	A549	lung
29	chr12:20778200-20780200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:20778200-20782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:20778400-20779600	Weak transcription	HepG2	liver
32	chr12:20778600-20779600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:20778600-20782400	Weak transcription	NHDF-Ad	bronchial
34	chr12:20778600-20783800	Enhancers	Fetal Intestine Large	intestine
35	chr12:20779000-20779800	Weak transcription	Fetal Lung	lung

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