Variant report

Variant	nsv878772
Chromosome Location	chr4:28006005-28030505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 362 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2192545	chr4:28006016-28006017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188550086	chr4:28006092-28006093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143721839	chr4:28006101-28006102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191731838	chr4:28006105-28006106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557145587	chr4:28006117-28006118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573710008	chr4:28006210-28006211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542946573	chr4:28006232-28006233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540531552	chr4:28006251-28006252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553987774	chr4:28006317-28006318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371707361	chr4:28006340-28006341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572500113	chr4:28006350-28006351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541420042	chr4:28006388-28006389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112027599	chr4:28006390-28006391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183888156	chr4:28006412-28006413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35923862	chr4:28006434-28006435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188264978	chr4:28006455-28006456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182287703	chr4:28006477-28006478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543504712	chr4:28006500-28006501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76118025	chr4:28006516-28006517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573862230	chr4:28006607-28006608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549697459	chr4:28006634-28006635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566012683	chr4:28006679-28006680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542172707	chr4:28006750-28006751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187212112	chr4:28006789-28006790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369053305	chr4:28006813-28006814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116616578	chr4:28006831-28006832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11736761	chr4:28006913-28006914	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537156395	chr4:28006916-28006917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556743200	chr4:28006919-28006920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567497327	chr4:28006926-28006927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369003562	chr4:28006944-28006945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189999121	chr4:28007013-28007014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553336708	chr4:28007089-28007090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573189639	chr4:28007092-28007093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116476336	chr4:28007093-28007094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181696428	chr4:28007101-28007102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185530370	chr4:28007110-28007111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147204912	chr4:28007111-28007112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563626992	chr4:28007121-28007122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544335982	chr4:28007145-28007146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2110511	chr4:28007167-28007168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542838728	chr4:28007171-28007172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559488294	chr4:28007219-28007220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571112905	chr4:28007232-28007233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528782877	chr4:28007235-28007236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80058550	chr4:28007299-28007300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533625428	chr4:28007336-28007337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570922809	chr4:28007343-28007344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139543753	chr4:28007371-28007372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550676469	chr4:28007377-28007378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28005800-28006600	Enhancers	Brain Hippocampus Middle	brain
2	chr4:28005800-28007000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:28006000-28012400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:28006200-28006400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr4:28006400-28009200	Weak transcription	Brain Anterior Caudate	brain
6	chr4:28006600-28009400	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:28007000-28007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:28007400-28007600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:28007600-28008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:28008600-28008800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:28008600-28009000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:28008600-28010200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:28008600-28010200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:28008800-28010200	Enhancers	Brain Substantia Nigra	brain
15	chr4:28009000-28010000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:28009000-28011400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:28009200-28009600	Enhancers	Brain Anterior Caudate	brain
18	chr4:28009400-28009600	Enhancers	Brain Hippocampus Middle	brain
19	chr4:28010000-28010200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:28010200-28011200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:28011200-28011400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:28011200-28012000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:28011400-28012800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:28012000-28012600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:28012400-28012600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:28012400-28012600	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:28012400-28012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:28012400-28012800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:28012600-28012800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:28016000-28018600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:28018600-28019000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:28030400-28030600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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