Variant report

Variant	nsv528183
Chromosome Location	chr12:30240765-30245104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12579602	chr12:30240765-30240766	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537062755	chr12:30240811-30240812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544277572	chr12:30240815-30240816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113536356	chr12:30240828-30240829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148411104	chr12:30240866-30240867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541555787	chr12:30240891-30240892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187130918	chr12:30240993-30240994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574579377	chr12:30240998-30240999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113016503	chr12:30241005-30241006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542007593	chr12:30241091-30241092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79388491	chr12:30241105-30241106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532779067	chr12:30241131-30241132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551398700	chr12:30241138-30241139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530800108	chr12:30241139-30241140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11050642	chr12:30241143-30241144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564142266	chr12:30241156-30241157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527702205	chr12:30241159-30241160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56067927	chr12:30241197-30241198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191951895	chr12:30241204-30241205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11050643	chr12:30241213-30241214	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536863540	chr12:30241230-30241231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560744679	chr12:30241272-30241273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548339847	chr12:30241301-30241302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184198417	chr12:30241321-30241322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10771631	chr12:30241370-30241371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs188115222	chr12:30241387-30241388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151212098	chr12:30241448-30241449	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs35830463	chr12:30241452-30241453	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534664070	chr12:30241453-30241454	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs556616311	chr12:30241462-30241463	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs12299867	chr12:30241486-30241487	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375860006	chr12:30241518-30241519	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs12822033	chr12:30241522-30241523	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192375142	chr12:30241529-30241530	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs117690222	chr12:30241548-30241549	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575496464	chr12:30241550-30241551	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs113333664	chr12:30241558-30241559	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572746236	chr12:30241615-30241616	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76110334	chr12:30241647-30241648	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75474407	chr12:30241666-30241667	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139150362	chr12:30241668-30241669	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539800613	chr12:30241673-30241674	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs185565444	chr12:30241702-30241703	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144077677	chr12:30241767-30241768	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543320465	chr12:30241840-30241841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564757111	chr12:30241963-30241964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11050644	chr12:30241964-30241965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs55791020	chr12:30241988-30241989	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs55950265	chr12:30242048-30242049	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74080504	chr12:30242100-30242101	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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 myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30237800-30241400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:30239400-30242200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:30240600-30241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:30241400-30241800	Enhancers	Rectal Smooth Muscle	rectum
5	chr12:30241400-30241800	Active TSS	Stomach Smooth Muscle	stomach
6	chr12:30241400-30242200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:30241600-30242000	Enhancers	HSMM	muscle
8	chr12:30241800-30243400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:30242200-30243400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:30243400-30243600	Enhancers	Stomach Smooth Muscle	stomach
11	chr12:30243400-30243800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:30243600-30244200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:30244200-30244400	Enhancers	Stomach Smooth Muscle	stomach
14	chr12:30244400-30244600	Weak transcription	Stomach Smooth Muscle	stomach

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