Variant report

Variant	nsv557715
Chromosome Location	chr12:21024839-21036533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 554 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10841684	chr12:21024839-21024840	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73233620	chr12:21024862-21024863	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144843457	chr12:21024902-21024903	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572777614	chr12:21024951-21024952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553376048	chr12:21024963-21024964	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538977021	chr12:21024964-21024965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190906115	chr12:21024996-21024997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2217696	chr12:21025007-21025008	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531106812	chr12:21025015-21025016	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550771617	chr12:21025059-21025060	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35122607	chr12:21025061-21025062	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530234679	chr12:21025101-21025102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555969000	chr12:21025125-21025126	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544817367	chr12:21025126-21025127	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78246358	chr12:21025135-21025136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532444853	chr12:21025146-21025147	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567805370	chr12:21025147-21025148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571570990	chr12:21025156-21025157	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375660805	chr12:21025178-21025179	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369358874	chr12:21025206-21025207	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141627094	chr12:21025272-21025273	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536423180	chr12:21025276-21025277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67588707	chr12:21025287-21025288	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78755754	chr12:21025303-21025304	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375727406	chr12:21025326-21025327	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544651199	chr12:21025396-21025397	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74067352	chr12:21025411-21025412	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77839467	chr12:21025443-21025444	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115618018	chr12:21025444-21025445	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1074745	chr12:21025445-21025446	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs530266695	chr12:21025454-21025455	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560093867	chr12:21025469-21025470	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183119101	chr12:21025480-21025481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117428098	chr12:21025531-21025532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532607387	chr12:21025532-21025533	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552611560	chr12:21025549-21025550	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187611310	chr12:21025556-21025557	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530846645	chr12:21025585-21025586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550921120	chr12:21025631-21025632	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150517101	chr12:21025669-21025670	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536096418	chr12:21025686-21025687	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372657027	chr12:21025690-21025691	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190575729	chr12:21025742-21025743	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566447932	chr12:21025748-21025749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139857019	chr12:21025788-21025789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558152538	chr12:21025808-21025809	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182820041	chr12:21025812-21025813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543791728	chr12:21025816-21025817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538118563	chr12:21025827-21025828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2417939	chr12:21025866-21025867	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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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