Variant report

Variant	esv3435183
Chromosome Location	chr12:12172285-12172763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4237938	chr12:12172293-12172294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573194065	chr12:12172296-12172297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149622178	chr12:12172342-12172343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369590408	chr12:12172343-12172344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75235692	chr12:12172344-12172345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374331670	chr12:12172345-12172346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111785117	chr12:12172347-12172348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78416295	chr12:12172348-12172349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112554936	chr12:12172358-12172359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4763752	chr12:12172359-12172360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4999747	chr12:12172361-12172362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545092904	chr12:12172367-12172368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78024947	chr12:12172369-12172370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4589385	chr12:12172371-12172372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544795437	chr12:12172396-12172397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7313230	chr12:12172441-12172442	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371738617	chr12:12172463-12172464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570565095	chr12:12172485-12172486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539536523	chr12:12172544-12172545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77173517	chr12:12172545-12172546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561212082	chr12:12172557-12172558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139434753	chr12:12172558-12172559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528352341	chr12:12172559-12172560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547005680	chr12:12172638-12172639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34359970	chr12:12172644-12172645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7312564	chr12:12172685-12172686	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532510309	chr12:12172697-12172698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550663495	chr12:12172703-12172704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564708937	chr12:12172715-12172716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60045430	chr12:12172716-12172717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536173211	chr12:12172718-12172719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397698113	chr12:12172730-12172731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568971693	chr12:12172761-12172762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
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
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12164600-12172600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:12164800-12179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:12168000-12172600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:12170000-12176800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:12170400-12175600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:12170600-12173600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:12170600-12176400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:12170600-12177600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:12170600-12177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:12170800-12176400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:12170800-12179200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:12171000-12173400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:12171000-12173600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:12171200-12176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:12171200-12185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:12171400-12174600	Weak transcription	GM12878-XiMat	blood
17	chr12:12171400-12175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:12171400-12175400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:12171400-12185200	Weak transcription	Spleen	Spleen
20	chr12:12171600-12175400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:12171600-12175400	Weak transcription	Fetal Thymus	thymus
22	chr12:12171800-12175800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:12171800-12185000	Weak transcription	Esophagus	oesophagus
24	chr12:12172000-12172400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:12172000-12172400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:12172200-12175600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:12172200-12175600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:12172200-12184600	Weak transcription	Thymus	Thymus
29	chr12:12172400-12173200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:12172400-12173200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:12172600-12173200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links