Variant report

Variant	esv3401618
Chromosome Location	chr12:21607843-21608393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:21608043-21608182	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PYROXD1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529820393	chr12:21607879-21607880	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2192181	chr12:21607903-21607904	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192923235	chr12:21607916-21607917	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140396444	chr12:21607927-21607928	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552446571	chr12:21607940-21607941	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571509297	chr12:21607964-21607965	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2192182	chr12:21608011-21608012	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs143546831	chr12:21608026-21608027	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370364689	chr12:21608036-21608037	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2192183	chr12:21608043-21608044	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs368407415	chr12:21608059-21608060	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs141093245	chr12:21608069-21608070	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372459516	chr12:21608088-21608089	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs35822299	chr12:21608094-21608095	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs146792991	chr12:21608132-21608133	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs113567035	chr12:21608185-21608186	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538924387	chr12:21608193-21608194	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140536982	chr12:21608200-21608201	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201374524	chr12:21608208-21608209	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367872308	chr12:21608258-21608259	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145682054	chr12:21608289-21608290	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554230981	chr12:21608383-21608384	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574236651	chr12:21608391-21608392	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7974743	chr12:21608392-21608393	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance

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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591600-21609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:21591600-21609000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:21591600-21609200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:21591800-21609000	Weak transcription	Fetal Heart	heart
5	chr12:21591800-21611000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:21591800-21614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:21592000-21614200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:21592000-21620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
13	chr12:21592200-21609000	Weak transcription	NH-A	brain
14	chr12:21592200-21609000	Weak transcription	NHDF-Ad	bronchial
15	chr12:21592200-21609200	Weak transcription	Brain Substantia Nigra	brain
16	chr12:21592400-21610400	Weak transcription	NHEK	skin
17	chr12:21592600-21609200	Weak transcription	Small Intestine	intestine
18	chr12:21592800-21631400	Weak transcription	K562	blood
19	chr12:21593400-21609000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:21593400-21609000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:21593400-21617800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr12:21594000-21617600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:21594800-21613200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:21595200-21608800	Weak transcription	HMEC	breast
25	chr12:21595600-21609200	Weak transcription	Colonic Mucosa	Colon
26	chr12:21595600-21626200	Weak transcription	Right Ventricle	heart
27	chr12:21595800-21609000	Weak transcription	Brain Germinal Matrix	brain
28	chr12:21595800-21609000	Weak transcription	HSMMtube	muscle
29	chr12:21595800-21609200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:21595800-21609200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:21595800-21610400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:21595800-21611000	Weak transcription	HepG2	liver
33	chr12:21595800-21624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:21595800-21633200	Weak transcription	Gastric	stomach
37	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:21596000-21611800	Weak transcription	Aorta	Aorta
39	chr12:21596000-21631600	Weak transcription	Pancreas	Pancrea
40	chr12:21596200-21625000	Weak transcription	NHLF	lung
41	chr12:21597000-21617800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:21597400-21636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:21598000-21620000	Weak transcription	A549	lung
44	chr12:21598200-21617800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:21598400-21617800	Strong transcription	Adipose Nuclei	Adipose
46	chr12:21598600-21617600	Strong transcription	Primary B cells from cord blood	blood
47	chr12:21599000-21609000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:21599000-21624400	Weak transcription	Fetal Brain Male	brain
49	chr12:21599000-21629600	Weak transcription	Stomach Mucosa	stomach
50	chr12:21599200-21614400	Weak transcription	HUVEC	blood vessel

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