Variant report

Variant	esv1815728
Chromosome Location	chr12:21028609-21030781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369572670	chr12:21028615-21028616	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572122974	chr12:21028623-21028624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547461508	chr12:21028690-21028691	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35169687	chr12:21028720-21028721	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4149128	chr12:21028774-21028775	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs4149129	chr12:21028822-21028823	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs4149130	chr12:21028839-21028840	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs180977755	chr12:21028840-21028841	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148440149	chr12:21028854-21028855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374727322	chr12:21028955-21028956	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377329765	chr12:21029030-21029031	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371211108	chr12:21029031-21029032	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398055384	chr12:21029038-21029039	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4149131	chr12:21029045-21029046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553680355	chr12:21029084-21029085	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11045576	chr12:21029090-21029091	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7131968	chr12:21029110-21029111	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542129589	chr12:21029112-21029113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374552723	chr12:21029142-21029143	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78274983	chr12:21029154-21029155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10841687	chr12:21029171-21029172	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11045577	chr12:21029198-21029199	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs576296260	chr12:21029201-21029202	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10841688	chr12:21029214-21029215	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571954649	chr12:21029264-21029265	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367920779	chr12:21029266-21029267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185853721	chr12:21029292-21029293	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532477967	chr12:21029314-21029315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541218746	chr12:21029330-21029331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371691506	chr12:21029338-21029339	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564216315	chr12:21029344-21029345	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67217149	chr12:21029380-21029381	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543412921	chr12:21029410-21029411	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563102337	chr12:21029425-21029426	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369157256	chr12:21029428-21029429	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142616479	chr12:21029476-21029477	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74067358	chr12:21029489-21029490	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188214537	chr12:21029501-21029502	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371916709	chr12:21029574-21029575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10841689	chr12:21029576-21029577	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs11045579	chr12:21029609-21029610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572031646	chr12:21029638-21029639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550968998	chr12:21029641-21029642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182032118	chr12:21029663-21029664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79605949	chr12:21029665-21029666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186413745	chr12:21029704-21029705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190827054	chr12:21029708-21029709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536627266	chr12:21029711-21029712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377308552	chr12:21029719-21029720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183253830	chr12:21029756-21029757	Weak transcription	n/a	n/a	Overlapped CNVs	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	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21027800-21029600	Strong transcription	Liver	Liver
2	chr12:21028400-21035800	Weak transcription	A549	lung
3	chr12:21029600-21032400	Weak transcription	Liver	Liver

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