Variant report

Variant	nsv898892
Chromosome Location	chr12:21428371-21453355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21449448..21450348-chr12:21590238..21590905,2	MCF-7	breast:
2	chr12:21442280..21445032-chr12:21445286..21448697,3	K562	blood:
3	chr12:21442280..21445032-chr12:21445286..21448697,3	K562	blood:

Variant related genes	Relation type
ENSG00000121350	chromatin interactions

Extended variants
information (count: 1003 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3764044	chr12:21428371-21428372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374818651	chr12:21428374-21428375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542570161	chr12:21428378-21428379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200951054	chr12:21428412-21428413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570396571	chr12:21428420-21428421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528871625	chr12:21428476-21428477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112970785	chr12:21428490-21428491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553033633	chr12:21428529-21428530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556434898	chr12:21428582-21428583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192251878	chr12:21428600-21428601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534430104	chr12:21428601-21428602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11829484	chr12:21428613-21428614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112034436	chr12:21428643-21428644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10431251	chr12:21428670-21428671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376708424	chr12:21428676-21428677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530687997	chr12:21428678-21428679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563461344	chr12:21428686-21428687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556823536	chr12:21428718-21428719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573896165	chr12:21428762-21428763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550384759	chr12:21428765-21428766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542207125	chr12:21428766-21428767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200655807	chr12:21428767-21428768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575297109	chr12:21428819-21428820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11045926	chr12:21428829-21428830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572465803	chr12:21428832-21428833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368843209	chr12:21428833-21428834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563753189	chr12:21428834-21428835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200829780	chr12:21428876-21428877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34082434	chr12:21428920-21428921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12369884	chr12:21428981-21428982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541557366	chr12:21429032-21429033	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529277141	chr12:21429063-21429064	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11045927	chr12:21429069-21429070	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139365539	chr12:21429080-21429081	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115493589	chr12:21429099-21429100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566274002	chr12:21429116-21429117	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564005788	chr12:21429175-21429176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529563943	chr12:21429234-21429235	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372289704	chr12:21429251-21429252	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548924120	chr12:21429294-21429295	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528747946	chr12:21429297-21429298	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559102120	chr12:21429302-21429303	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184309917	chr12:21429304-21429305	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372131524	chr12:21429322-21429323	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551041451	chr12:21429337-21429338	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3060629	chr12:21429352-21429353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11045928	chr12:21429355-21429356	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs3060632	chr12:21429358-21429359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536841520	chr12:21429390-21429391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147561216	chr12:21429479-21429480	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Multiple myeloma	17550852	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Obesity	20950786	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21411000-21460400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:21416200-21449600	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:21416200-21473600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:21417000-21429800	Weak transcription	Brain Substantia Nigra	brain
5	chr12:21422600-21447200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:21426600-21429000	Weak transcription	Liver	Liver
7	chr12:21426600-21460400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:21429000-21430000	Strong transcription	Liver	Liver
9	chr12:21429600-21429800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:21429800-21430200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:21429800-21430200	Genic enhancers	Brain Substantia Nigra	brain
12	chr12:21430000-21431600	ZNF genes & repeats	Liver	Liver
13	chr12:21430200-21431200	Strong transcription	Brain Substantia Nigra	brain
14	chr12:21431200-21441000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:21440600-21448200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:21441000-21441600	Strong transcription	Brain Substantia Nigra	brain
17	chr12:21441600-21446800	Weak transcription	Brain Substantia Nigra	brain
18	chr12:21442200-21445000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:21446800-21447600	Strong transcription	Brain Substantia Nigra	brain
20	chr12:21447600-21460600	Weak transcription	Brain Substantia Nigra	brain
21	chr12:21448200-21448400	ZNF genes & repeats	Brain Angular Gyrus	brain
22	chr12:21448400-21449600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:21449200-21453200	Weak transcription	Liver	Liver
24	chr12:21449400-21449800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:21449600-21449800	Enhancers	A549	lung
26	chr12:21449600-21450200	Enhancers	Dnd41	blood
27	chr12:21449600-21450800	Enhancers	Brain Angular Gyrus	brain
28	chr12:21449600-21450800	Enhancers	Brain Hippocampus Middle	brain
29	chr12:21450000-21450600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:21450800-21451200	Weak transcription	Brain Angular Gyrus	brain
31	chr12:21450800-21460600	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:21451200-21451400	Enhancers	Brain Angular Gyrus	brain
33	chr12:21451400-21460600	Weak transcription	Brain Angular Gyrus	brain
34	chr12:21453200-21454400	Enhancers	Liver	Liver

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