Variant report

Variant	nsv528000
Chromosome Location	chr12:33408131-33419575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 504 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:504 , 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	rs7296338	chr12:33408131-33408132	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558396101	chr12:33408154-33408155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192130633	chr12:33408157-33408158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7296690	chr12:33408167-33408168	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548717404	chr12:33408210-33408211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540969160	chr12:33408216-33408217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7296488	chr12:33408219-33408220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531202410	chr12:33408222-33408223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372993054	chr12:33408314-33408315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550977678	chr12:33408317-33408318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570541354	chr12:33408380-33408381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539446550	chr12:33408417-33408418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10844510	chr12:33408433-33408434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150763653	chr12:33408448-33408449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534519133	chr12:33408457-33408458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180823895	chr12:33408544-33408545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574868598	chr12:33408549-33408550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10844511	chr12:33408554-33408555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139206978	chr12:33408573-33408574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371836819	chr12:33408579-33408580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576960204	chr12:33408587-33408588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149965557	chr12:33408614-33408615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559495163	chr12:33408638-33408639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528162372	chr12:33408691-33408692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186056204	chr12:33408705-33408706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562343977	chr12:33408707-33408708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530991941	chr12:33408745-33408746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563651844	chr12:33408748-33408749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531266411	chr12:33408761-33408762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116877840	chr12:33408763-33408764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189987566	chr12:33408836-33408837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533161556	chr12:33408936-33408937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546539692	chr12:33408984-33408985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182580111	chr12:33408994-33408995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11052560	chr12:33409043-33409044	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs555562336	chr12:33409044-33409045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187233131	chr12:33409046-33409047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370093050	chr12:33409047-33409048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190508079	chr12:33409056-33409057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557332895	chr12:33409057-33409058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10844512	chr12:33409083-33409084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs76560659	chr12:33409084-33409085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10844513	chr12:33409087-33409088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565682251	chr12:33409128-33409129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144116866	chr12:33409269-33409270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11833175	chr12:33409282-33409283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561628566	chr12:33409301-33409302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10844514	chr12:33409324-33409325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544362580	chr12:33409326-33409327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564439959	chr12:33409335-33409336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33403000-33413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33406600-33408200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:33408800-33409200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:33413200-33413400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:33413400-33418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33418000-33418600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:33418000-33418800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:33418400-33418800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:33418400-33419000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:33418400-33420200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:33418600-33427800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:33419000-33420200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links