Variant report

Variant	nsv970016
Chromosome Location	chr5:101108553-101119877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146835880	chr5:101117000-101117001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188843625	chr5:101117024-101117025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73176578	chr5:101117036-101117037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115208457	chr5:101117051-101117052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563951952	chr5:101117059-101117060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75111376	chr5:101117072-101117073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7729148	chr5:101117079-101117080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79159429	chr5:101117120-101117121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567797387	chr5:101117152-101117153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534760329	chr5:101117345-101117346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76653843	chr5:101117400-101117401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571072093	chr5:101117408-101117409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199661856	chr5:101117415-101117416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202089220	chr5:101117429-101117430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538565830	chr5:101117434-101117435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556864379	chr5:101117439-101117440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1453108	chr5:101117440-101117441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536283908	chr5:101117477-101117478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554222311	chr5:101117543-101117544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572905200	chr5:101117544-101117545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192677048	chr5:101117554-101117555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553625571	chr5:101117585-101117586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1479076	chr5:101117611-101117612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545605365	chr5:101117646-101117647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10036426	chr5:101117655-101117656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1479077	chr5:101117663-101117664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564013194	chr5:101117686-101117687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2061864	chr5:101117693-101117694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543008213	chr5:101117704-101117705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77892996	chr5:101117721-101117722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528598011	chr5:101117757-101117758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531865526	chr5:101117780-101117781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546658161	chr5:101117819-101117820	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373509164	chr5:101117847-101117848	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571384470	chr5:101117873-101117874	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182525008	chr5:101117890-101117891	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546527254	chr5:101117912-101117913	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549876437	chr5:101118028-101118029	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187181495	chr5:101118056-101118057	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62383890	chr5:101118073-101118074	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35041803	chr5:101118216-101118217	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61486481	chr5:101118243-101118244	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs58228638	chr5:101118247-101118248	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191308429	chr5:101118265-101118266	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145848830	chr5:101118284-101118285	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111688668	chr5:101118323-101118324	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140959777	chr5:101118418-101118419	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs577005554	chr5:101118475-101118476	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs183845497	chr5:101118478-101118479	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75871395	chr5:101118480-101118481	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101117000-101117200	Enhancers	Colon Smooth Muscle	Colon
2	chr5:101117200-101119000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:101117800-101119800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:101118200-101118400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:101118200-101118600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:101118400-101118600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:101118400-101118800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:101118400-101119600	Active TSS	A549	lung
9	chr5:101118600-101118800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr5:101118600-101119000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:101118600-101119600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:101118600-101119600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:101118800-101119000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
14	chr5:101118800-101119000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:101118800-101119000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr5:101118800-101119200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr5:101118800-101119200	Active TSS	Stomach Mucosa	stomach
18	chr5:101118800-101119400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:101118800-101119600	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr5:101118800-101119600	Active TSS	Brain Angular Gyrus	brain
21	chr5:101118800-101119600	Active TSS	Brain Anterior Caudate	brain
22	chr5:101118800-101119600	Active TSS	NH-A	brain
23	chr5:101118800-101119800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:101118800-101119800	Active TSS	Brain Germinal Matrix	brain
25	chr5:101118800-101119800	Active TSS	Brain Hippocampus Middle	brain
26	chr5:101118800-101119800	Active TSS	Brain Substantia Nigra	brain
27	chr5:101118800-101119800	Active TSS	Fetal Brain Female	brain
28	chr5:101118800-101119800	Active TSS	NHDF-Ad	bronchial
29	chr5:101119000-101119200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:101119000-101119200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:101119000-101119200	Enhancers	Lung	lung
32	chr5:101119000-101119400	Active TSS	Primary hematopoietic stem cells	blood
33	chr5:101119000-101119400	Active TSS	HSMM	muscle
34	chr5:101119000-101119600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr5:101119000-101119600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr5:101119000-101119600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:101119000-101119600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:101119000-101119600	Active TSS	Adipose Nuclei	Adipose
39	chr5:101119000-101119600	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr5:101119000-101119600	Active TSS	Fetal Intestine Large	intestine
41	chr5:101119000-101119600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
42	chr5:101119000-101119600	Active TSS	Fetal Muscle Trunk	muscle
43	chr5:101119000-101119600	Active TSS	Fetal Muscle Leg	muscle
44	chr5:101119000-101119600	Enhancers	Ovary	ovary
45	chr5:101119000-101119600	Active TSS	Psoas Muscle	Psoas
46	chr5:101119000-101119600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr5:101119000-101119600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr5:101119000-101119600	Active TSS	HSMMtube	muscle
49	chr5:101119000-101119800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:101119000-101119800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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