Variant report

Variant	nsv557716
Chromosome Location	chr12:21025866-21036533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 505 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2417939	chr12:21025866-21025867	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371120234	chr12:21025915-21025916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187972747	chr12:21025929-21025930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540475984	chr12:21025968-21025969	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373539355	chr12:21025995-21025996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560698363	chr12:21026000-21026001	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7301193	chr12:21026007-21026008	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143287038	chr12:21026055-21026056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562947114	chr12:21026059-21026060	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531772569	chr12:21026109-21026110	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548553166	chr12:21026119-21026120	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536763862	chr12:21026129-21026130	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553146019	chr12:21026146-21026147	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561074727	chr12:21026156-21026157	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146235325	chr12:21026160-21026161	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192725209	chr12:21026164-21026165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184165193	chr12:21026195-21026196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139307599	chr12:21026252-21026253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12316758	chr12:21026254-21026255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145083954	chr12:21026261-21026262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79970874	chr12:21026282-21026283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71446732	chr12:21026286-21026287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398070050	chr12:21026300-21026301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77093601	chr12:21026301-21026302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6487170	chr12:21026353-21026354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35469554	chr12:21026387-21026388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554505388	chr12:21026400-21026401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75787953	chr12:21026404-21026405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6487171	chr12:21026416-21026417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189142474	chr12:21026422-21026423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577538957	chr12:21026433-21026434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546402814	chr12:21026434-21026435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568329008	chr12:21026536-21026537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117261461	chr12:21026537-21026538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377243690	chr12:21026551-21026552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370291479	chr12:21026570-21026571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561540743	chr12:21026609-21026610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7970055	chr12:21026630-21026631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529966637	chr12:21026647-21026648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546901847	chr12:21026650-21026651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142776688	chr12:21026674-21026675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532216592	chr12:21026716-21026717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192619413	chr12:21026719-21026720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9795527	chr12:21026900-21026901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184636573	chr12:21026944-21026945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11045574	chr12:21026980-21026981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568017785	chr12:21026993-21026994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189087476	chr12:21027006-21027007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11045575	chr12:21027025-21027026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577601152	chr12:21027099-21027100	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21020600-21027400	Weak transcription	A549	lung
2	chr12:21024600-21026200	Strong transcription	Liver	Liver
3	chr12:21026200-21027800	Weak transcription	Liver	Liver
4	chr12:21027400-21028400	Strong transcription	A549	lung
5	chr12:21027800-21029600	Strong transcription	Liver	Liver
6	chr12:21028400-21035800	Weak transcription	A549	lung
7	chr12:21029600-21032400	Weak transcription	Liver	Liver
8	chr12:21032400-21035400	Strong transcription	Liver	Liver
9	chr12:21034000-21034200	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:21034400-21035000	Enhancers	Stomach Mucosa	stomach
11	chr12:21034400-21035600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:21035000-21035400	Weak transcription	Stomach Mucosa	stomach
13	chr12:21035400-21036000	Enhancers	Stomach Mucosa	stomach
14	chr12:21035400-21039000	Weak transcription	Liver	Liver
15	chr12:21035600-21036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:21035600-21036600	Enhancers	Rectal Smooth Muscle	rectum
17	chr12:21035600-21037800	Enhancers	Colon Smooth Muscle	Colon
18	chr12:21035800-21036600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr12:21035800-21037000	Enhancers	Adipose Nuclei	Adipose
20	chr12:21035800-21037600	Enhancers	HUVEC	blood vessel
21	chr12:21035800-21038200	Enhancers	A549	lung

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