Variant report

Variant	esv3433505
Chromosome Location	chr12:21626096-21626380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554844526	chr12:21626107-21626108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574598440	chr12:21626108-21626109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534088210	chr12:21626109-21626110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553369123	chr12:21626111-21626112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573296050	chr12:21626113-21626114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545497310	chr12:21626117-21626118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565271538	chr12:21626129-21626130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575787377	chr12:21626136-21626137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368402420	chr12:21626152-21626153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561537416	chr12:21626154-21626155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12371829	chr12:21626168-21626169	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187749584	chr12:21626177-21626178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138066296	chr12:21626220-21626221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532012597	chr12:21626247-21626248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376379027	chr12:21626278-21626279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs917851	chr12:21626287-21626288	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs568904565	chr12:21626289-21626290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537949914	chr12:21626322-21626323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs917852	chr12:21626324-21626325	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs917853	chr12:21626330-21626331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11046077	chr12:21626344-21626345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554138075	chr12:21626359-21626360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573259392	chr12:21626372-21626373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Acute lymphoblastic leukemia	22237106	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	17363583	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
2	chr12:21592800-21631400	Weak transcription	K562	blood
3	chr12:21595600-21626200	Weak transcription	Right Ventricle	heart
4	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:21595800-21633200	Weak transcription	Gastric	stomach
7	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:21596000-21631600	Weak transcription	Pancreas	Pancrea
9	chr12:21597400-21636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:21599000-21629600	Weak transcription	Stomach Mucosa	stomach
11	chr12:21607000-21645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:21610600-21626200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:21611000-21652800	Weak transcription	Small Intestine	intestine
14	chr12:21611000-21653600	Weak transcription	Esophagus	oesophagus
15	chr12:21611200-21631400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:21611200-21640800	Weak transcription	Fetal Heart	heart
17	chr12:21611800-21626600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:21612200-21630800	Weak transcription	Spleen	Spleen
19	chr12:21612400-21627200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:21612600-21631000	Weak transcription	Lung	lung
21	chr12:21613800-21631600	Weak transcription	Fetal Stomach	stomach
22	chr12:21614800-21652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:21616600-21631800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:21617000-21653000	Weak transcription	Colonic Mucosa	Colon
25	chr12:21617400-21630800	Weak transcription	Thymus	Thymus
26	chr12:21617600-21626800	Weak transcription	Fetal Lung	lung
27	chr12:21617800-21626200	Weak transcription	Brain Substantia Nigra	brain
28	chr12:21619400-21627000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:21619800-21638400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:21619800-21652200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:21619800-21652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:21619800-21652400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:21620000-21630000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:21620200-21652600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:21620400-21629800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:21620400-21637800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:21620600-21636600	Strong transcription	Dnd41	blood
38	chr12:21620600-21652200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr12:21620800-21636600	Strong transcription	Fetal Thymus	thymus
40	chr12:21621000-21630600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:21621600-21626200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:21623000-21635400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:21623200-21649400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:21623400-21633400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:21623800-21627000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:21623800-21629600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:21623800-21629800	Strong transcription	NH-A	brain
48	chr12:21623800-21630000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:21623800-21636600	Strong transcription	Liver	Liver
50	chr12:21623800-21636800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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