Variant report

Variant	nsv557702
Chromosome Location	chr12:20755626-20779078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 987 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:987 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10770674	chr12:20755626-20755627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140524687	chr12:20755640-20755641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143316882	chr12:20755670-20755671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549865708	chr12:20755689-20755690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538140511	chr12:20755831-20755832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185322134	chr12:20755892-20755893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535390214	chr12:20755902-20755903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147548216	chr12:20755910-20755911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574559314	chr12:20755929-20755930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535373339	chr12:20755955-20755956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558046514	chr12:20755962-20755963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7314654	chr12:20755963-20755964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190067751	chr12:20755972-20755973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11045326	chr12:20756038-20756039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573805997	chr12:20756082-20756083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs80110640	chr12:20756179-20756180	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs71972034	chr12:20756199-20756200	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368996918	chr12:20756210-20756211	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559748140	chr12:20756226-20756227	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs78114572	chr12:20756283-20756284	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs527571748	chr12:20756360-20756361	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531158172	chr12:20756370-20756371	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs544963463	chr12:20756371-20756372	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376262736	chr12:20756377-20756378	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536780809	chr12:20756410-20756411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs137897496	chr12:20756462-20756463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142092620	chr12:20756488-20756489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192706913	chr12:20756496-20756497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11831185	chr12:20756554-20756555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554284194	chr12:20756568-20756569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569724959	chr12:20756593-20756594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529039203	chr12:20756618-20756619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548698777	chr12:20756620-20756621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565697241	chr12:20756623-20756624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149247522	chr12:20756632-20756633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183877002	chr12:20756634-20756635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371245737	chr12:20756639-20756640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531158687	chr12:20756673-20756674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534989552	chr12:20756687-20756688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149466711	chr12:20756705-20756706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571612032	chr12:20756707-20756708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544870802	chr12:20756723-20756724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557172944	chr12:20756764-20756765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80013638	chr12:20756767-20756768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75758830	chr12:20756802-20756803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368744928	chr12:20756805-20756806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143940520	chr12:20756806-20756807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148643961	chr12:20756822-20756823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188213921	chr12:20756828-20756829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7133190	chr12:20756853-20756854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
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
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
Myofibroblastic sarcoma	19369631	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	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	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20743600-20756000	Weak transcription	Left Ventricle	heart
2	chr12:20751800-20756000	Enhancers	A549	lung
3	chr12:20752200-20756000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:20752200-20766200	Weak transcription	Aorta	Aorta
5	chr12:20753600-20756200	Enhancers	Brain Hippocampus Middle	brain
6	chr12:20753800-20756200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:20754000-20756800	Enhancers	NHDF-Ad	bronchial
8	chr12:20754000-20766200	Weak transcription	Hela-S3	cervix
9	chr12:20754200-20756800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:20754200-20766200	Weak transcription	Right Ventricle	heart
11	chr12:20754400-20755800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr12:20754400-20757800	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:20754800-20755800	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:20754800-20756400	Enhancers	HUVEC	blood vessel
15	chr12:20754800-20756800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:20754800-20756800	Enhancers	Osteobl	bone
17	chr12:20755000-20756200	Enhancers	Fetal Stomach	stomach
18	chr12:20755000-20756800	Enhancers	NHLF	lung
19	chr12:20755200-20756200	Enhancers	Fetal Lung	lung
20	chr12:20755400-20756200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:20755400-20756200	Enhancers	Fetal Muscle Leg	muscle
22	chr12:20755400-20756800	Enhancers	NH-A	brain
23	chr12:20755400-20758200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:20755600-20756200	Enhancers	Stomach Mucosa	stomach
25	chr12:20755600-20756400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:20755600-20756400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:20755600-20761000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:20755600-20766200	Weak transcription	Fetal Intestine Large	intestine
29	chr12:20755800-20756200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:20755800-20761000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:20756000-20756200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:20756000-20756200	Enhancers	Left Ventricle	heart
33	chr12:20756000-20756400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:20756000-20756400	Flanking Active TSS	A549	lung
35	chr12:20756200-20756600	Weak transcription	Left Ventricle	heart
36	chr12:20756200-20761000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:20756200-20780200	Weak transcription	Fetal Stomach	stomach
38	chr12:20756200-20784400	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:20756400-20757200	Enhancers	A549	lung
40	chr12:20756400-20766200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:20756600-20757200	Enhancers	Left Ventricle	heart
42	chr12:20756800-20757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:20756800-20757800	Weak transcription	NHDF-Ad	bronchial
44	chr12:20756800-20761000	Weak transcription	Osteobl	bone
45	chr12:20757200-20757600	Weak transcription	A549	lung
46	chr12:20757600-20757800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:20757600-20758800	Enhancers	A549	lung
48	chr12:20757800-20758000	Enhancers	NHDF-Ad	bronchial
49	chr12:20757800-20758200	Enhancers	Colon Smooth Muscle	Colon
50	chr12:20757800-20758200	Enhancers	Fetal Heart	heart

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