Variant report

Variant	esv3391022
Chromosome Location	chr12:21775235-21776283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59771385	chr12:21775364-21775365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547265389	chr12:21775382-21775383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199895445	chr12:21775427-21775428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560158227	chr12:21775429-21775430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532361722	chr12:21775432-21775433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111869047	chr12:21775616-21775617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370677217	chr12:21775636-21775637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375182776	chr12:21775656-21775657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200852616	chr12:21775714-21775715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552463528	chr12:21775722-21775723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552650762	chr12:21775733-21775734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569209906	chr12:21775734-21775735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568976844	chr12:21775741-21775742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9738414	chr12:21775746-21775747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538457888	chr12:21775761-21775762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548462407	chr12:21775766-21775767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187024937	chr12:21775837-21775838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7974267	chr12:21775902-21775903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538031877	chr12:21775914-21775915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554503830	chr12:21775925-21775926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7974553	chr12:21776001-21776002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7977241	chr12:21776036-21776037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs576954943	chr12:21776081-21776082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539391732	chr12:21776090-21776091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189991628	chr12:21776102-21776103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576020712	chr12:21776109-21776110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200421734	chr12:21776176-21776177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557216961	chr12:21776201-21776202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145612689	chr12:21776236-21776237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182254021	chr12:21776238-21776239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Basal cell lymphoma	17053054	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
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
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
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21767200-21785800	Weak transcription	A549	lung
2	chr12:21769200-21785000	Weak transcription	Dnd41	blood
3	chr12:21769200-21785400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:21769400-21786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:21770600-21784200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:21771600-21785600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:21773200-21786800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:21773800-21784000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:21775800-21776400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links