Variant report

Variant	esv3338893
Chromosome Location	chr12:104880122-104884520
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104879669..104882101-chr12:104882975..104884643,2	K562	blood:
2	chr12:104869578..104872458-chr12:104877687..104880614,4	K562	blood:
3	chr12:104882770..104885599-chr12:104898967..104901298,2	K562	blood:
4	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:
5	chr12:104879669..104882101-chr12:104882975..104884643,2	K562	blood:

Extended variants
information (count: 203 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201835932	chr12:104880175-104880176	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs138319717	chr12:104880187-104880188	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs545927556	chr12:104880245-104880246	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs79302686	chr12:104880288-104880289	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs568956945	chr12:104880422-104880423	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537965868	chr12:104880447-104880448	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7956477	chr12:104880469-104880470	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369677154	chr12:104880477-104880478	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574584134	chr12:104880523-104880524	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193259474	chr12:104880524-104880525	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576321732	chr12:104880571-104880572	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202207706	chr12:104880582-104880583	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372618191	chr12:104880587-104880588	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148450426	chr12:104880629-104880630	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs75230307	chr12:104880642-104880643	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553740255	chr12:104880649-104880650	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75164619	chr12:104880707-104880708	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373446627	chr12:104880712-104880713	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs184068344	chr12:104880739-104880740	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs575313951	chr12:104880758-104880759	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543859316	chr12:104880762-104880763	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544348128	chr12:104880835-104880836	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372006600	chr12:104880908-104880909	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77183584	chr12:104880925-104880926	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562093074	chr12:104880941-104880942	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554857989	chr12:104880942-104880943	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547193198	chr12:104881038-104881039	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560588867	chr12:104881051-104881052	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532874344	chr12:104881057-104881058	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79853995	chr12:104881095-104881096	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568916305	chr12:104881107-104881108	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537928932	chr12:104881111-104881112	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548264184	chr12:104881133-104881134	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568147330	chr12:104881162-104881163	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2091769	chr12:104881167-104881168	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138506932	chr12:104881180-104881181	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558808145	chr12:104881203-104881204	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576994306	chr12:104881264-104881265	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141546706	chr12:104881267-104881268	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146204406	chr12:104881278-104881279	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558527373	chr12:104881286-104881287	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575276980	chr12:104881291-104881292	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544209063	chr12:104881300-104881301	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10861225	chr12:104881328-104881329	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574891286	chr12:104881377-104881378	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79322226	chr12:104881390-104881391	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574740185	chr12:104881473-104881474	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116165030	chr12:104881491-104881492	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559281271	chr12:104881506-104881507	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11442051	chr12:104881507-104881508	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104866600-104882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:104872600-104882400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:104872800-104880600	Weak transcription	Stomach Mucosa	stomach
5	chr12:104872800-104883000	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:104872800-104887000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:104873000-104887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104873800-104880800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:104875000-104880400	Weak transcription	Osteobl	bone
11	chr12:104875000-104887000	Weak transcription	Placenta	Placenta
12	chr12:104875200-104880200	Weak transcription	Fetal Stomach	stomach
13	chr12:104875200-104880600	Weak transcription	Adipose Nuclei	Adipose
14	chr12:104875200-104880800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:104875200-104882000	Weak transcription	Gastric	stomach
16	chr12:104875200-104882400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:104875200-104888000	Weak transcription	HMEC	breast
18	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:104875200-104897000	Weak transcription	NHEK	skin
20	chr12:104875400-104880200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:104875400-104880200	Weak transcription	HSMM	muscle
22	chr12:104875400-104880600	Weak transcription	Fetal Intestine Small	intestine
23	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:104876800-104880600	Weak transcription	A549	lung
25	chr12:104877000-104882000	Weak transcription	Fetal Lung	lung
26	chr12:104877400-104881600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:104877800-104880200	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:104877800-104887000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:104878000-104885400	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:104878000-104886000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:104878400-104882600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:104878600-104881200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:104878600-104882200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:104878600-104885000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:104878800-104880400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:104879000-104880400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:104879000-104880400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr12:104879200-104880400	Enhancers	Esophagus	oesophagus
39	chr12:104879200-104880400	Enhancers	Spleen	Spleen
40	chr12:104879200-104880600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
41	chr12:104879200-104880800	Enhancers	Right Ventricle	heart
42	chr12:104879200-104881000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:104879200-104881400	Enhancers	Left Ventricle	heart
44	chr12:104879200-104881400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:104879400-104880600	Enhancers	Fetal Heart	heart
46	chr12:104879400-104881000	Enhancers	Brain Substantia Nigra	brain
47	chr12:104879400-104881400	Enhancers	Fetal Muscle Leg	muscle
48	chr12:104879400-104881600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:104879400-104882000	Enhancers	Fetal Brain Male	brain
50	chr12:104879400-104882200	Weak transcription	H9 Cell Line	embryonic stem cell

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