Variant report

Variant	nsv832385
Chromosome Location	chr12:41959363-41966261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 321 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146133579	chr12:41959370-41959371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558332840	chr12:41959392-41959393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192755660	chr12:41959405-41959406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560776906	chr12:41959406-41959407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184963552	chr12:41959408-41959409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540003011	chr12:41959431-41959432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562535789	chr12:41959458-41959459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564855941	chr12:41959487-41959488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576890496	chr12:41959570-41959571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532235041	chr12:41959590-41959591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550593111	chr12:41959598-41959599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562342563	chr12:41959611-41959612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529825155	chr12:41959614-41959615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7313159	chr12:41959657-41959658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs566540749	chr12:41959683-41959684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138944920	chr12:41959684-41959685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527912414	chr12:41959689-41959690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149422798	chr12:41959708-41959709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144840558	chr12:41959736-41959737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148600454	chr12:41959741-41959742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556566107	chr12:41959768-41959769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188145394	chr12:41959769-41959770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573960151	chr12:41959772-41959773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7313050	chr12:41959788-41959789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs553863748	chr12:41959815-41959816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180915315	chr12:41959847-41959848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73282241	chr12:41959850-41959851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558322119	chr12:41959862-41959863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577115292	chr12:41959887-41959888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77367431	chr12:41959923-41959924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562541832	chr12:41959956-41959957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75928311	chr12:41959960-41959961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369096516	chr12:41959977-41959978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184739479	chr12:41959997-41959998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560294686	chr12:41960049-41960050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527338703	chr12:41960055-41960056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10506197	chr12:41960061-41960062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10785271	chr12:41960097-41960098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546001966	chr12:41960112-41960113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189647171	chr12:41960117-41960118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34160768	chr12:41960139-41960140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181819089	chr12:41960148-41960149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs285569	chr12:41960165-41960166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs148998612	chr12:41960195-41960196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143811382	chr12:41960201-41960202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568702257	chr12:41960203-41960204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77061089	chr12:41960233-41960234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117804561	chr12:41960255-41960256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12301166	chr12:41960320-41960321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186917654	chr12:41960372-41960373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41944600-41966200	Weak transcription	Ovary	ovary
2	chr12:41948600-41959800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:41957400-41966200	Weak transcription	Aorta	Aorta
4	chr12:41957800-41965000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:41958000-41966800	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:41959400-41970800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:41959800-41961600	Enhancers	Brain Germinal Matrix	brain
8	chr12:41961200-41961400	Enhancers	Fetal Brain Female	brain
9	chr12:41961400-41968600	Weak transcription	Fetal Brain Female	brain
10	chr12:41961600-41966600	Weak transcription	Brain Germinal Matrix	brain
11	chr12:41964600-41966200	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:41964600-41966200	Weak transcription	Fetal Stomach	stomach
13	chr12:41965000-41968400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr12:41965800-41968200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:41965800-41968600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:41966000-41966400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:41966200-41967000	Strong transcription	Aorta	Aorta
18	chr12:41966200-41967200	Strong transcription	Brain Hippocampus Middle	brain
19	chr12:41966200-41967200	Strong transcription	Ovary	ovary
20	chr12:41966200-41967600	Strong transcription	Fetal Stomach	stomach
21	chr12:41966200-41973000	Weak transcription	Brain Inferior Temporal Lobe	brain

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