Variant report

Variant	nsv9669
Chromosome Location	chr2:40951727-40959784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 338 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:338 , 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	rs369124464	chr2:40951765-40951766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566618017	chr2:40951772-40951773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527712366	chr2:40951785-40951786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552130711	chr2:40951864-40951865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187902784	chr2:40951890-40951891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11899009	chr2:40951937-40951938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549954978	chr2:40951942-40951943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139701610	chr2:40951958-40951959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149795069	chr2:40951968-40951969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11894004	chr2:40951975-40951976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570003773	chr2:40951979-40951980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572157457	chr2:40952009-40952010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539469480	chr2:40952014-40952015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192575701	chr2:40952028-40952029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111976950	chr2:40952089-40952090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577482763	chr2:40952090-40952091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544539202	chr2:40952101-40952102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183453793	chr2:40952110-40952111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188183089	chr2:40952136-40952137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542004117	chr2:40952168-40952169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560239578	chr2:40952183-40952184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550117210	chr2:40952184-40952185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373186370	chr2:40952185-40952186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192671564	chr2:40952189-40952190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552686866	chr2:40952191-40952192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564281751	chr2:40952215-40952216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185063652	chr2:40952262-40952263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568524943	chr2:40952271-40952272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146341545	chr2:40952290-40952291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539319773	chr2:40952304-40952305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77911088	chr2:40952307-40952308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535684352	chr2:40952361-40952362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139303292	chr2:40952375-40952376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144074643	chr2:40952459-40952460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189897218	chr2:40952467-40952468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557743831	chr2:40952470-40952471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6709044	chr2:40952508-40952509	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575037182	chr2:40952565-40952566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536120252	chr2:40952590-40952591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6709173	chr2:40952596-40952597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553431156	chr2:40952611-40952612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375337531	chr2:40952614-40952615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575162961	chr2:40952628-40952629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146486096	chr2:40952629-40952630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77580674	chr2:40952654-40952655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560276675	chr2:40952670-40952671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572214379	chr2:40952677-40952678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545927399	chr2:40952681-40952682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557361364	chr2:40952739-40952740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564599240	chr2:40952748-40952749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40947000-40952400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:40949200-40961400	Weak transcription	HSMM	muscle
3	chr2:40949400-40952200	Weak transcription	HMEC	breast
4	chr2:40949400-40973200	Weak transcription	HSMMtube	muscle
5	chr2:40950200-40952400	Weak transcription	Esophagus	oesophagus
6	chr2:40951400-40952400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:40952200-40953000	Enhancers	HMEC	breast
8	chr2:40952400-40953000	Enhancers	Esophagus	oesophagus
9	chr2:40952400-40953200	Enhancers	Placenta	Placenta
10	chr2:40952400-40953400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:40952400-40953600	Enhancers	Colon Smooth Muscle	Colon
12	chr2:40952400-40953600	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:40953200-40957000	Weak transcription	Placenta	Placenta
14	chr2:40957000-40957600	Enhancers	Placenta	Placenta
15	chr2:40957600-40962800	Weak transcription	Placenta	Placenta

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