Variant report

Variant	esv19552
Chromosome Location	chr12:66994805-66995301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7131878	chr12:66994814-66994815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571535585	chr12:66994825-66994826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150209293	chr12:66994856-66994857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557306625	chr12:66994860-66994861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373506627	chr12:66994877-66994878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539855746	chr12:66994886-66994887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575588148	chr12:66994893-66994894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201286623	chr12:66994906-66994907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572097955	chr12:66994907-66994908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376223333	chr12:66994930-66994931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7953062	chr12:66994969-66994970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369111914	chr12:66995002-66995003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555101600	chr12:66995013-66995014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7968118	chr12:66995054-66995055	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34700459	chr12:66995061-66995062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191611237	chr12:66995134-66995135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7953305	chr12:66995156-66995157	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569936969	chr12:66995168-66995169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7953441	chr12:66995266-66995267	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10161213	chr12:66995270-66995271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs367898074	chr12:66995275-66995276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66991400-66995000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:66991600-66995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:66992600-66995600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:66993600-66996600	Enhancers	Fetal Brain Female	brain
5	chr12:66994000-66996400	Weak transcription	Fetal Kidney	kidney
6	chr12:66994400-66997000	Enhancers	Brain Germinal Matrix	brain
7	chr12:66994600-66995000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:66994600-66995000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:66994600-66995200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:66994600-66995200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:66994600-66995400	Enhancers	Fetal Brain Male	brain
12	chr12:66994600-66995600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:66994800-66995600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:66994800-66995600	Enhancers	Colon Smooth Muscle	Colon
15	chr12:66994800-66996200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:66994800-66996600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:66994800-66996600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:66994800-66997000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:66994800-66997200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:66994800-66997400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:66994800-66997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:66994800-66998000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:66995000-66995400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:66995000-66998000	Enhancers	H1 Cell Line	embryonic stem cell

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