Variant report

Variant	nsv882753
Chromosome Location	chr5:116505127-116549669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1583 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138629689	chr5:116512675-116512676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187079464	chr5:116512693-116512694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529080907	chr5:116512703-116512704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576662556	chr5:116512704-116512705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138109268	chr5:116512705-116512706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367704562	chr5:116512787-116512788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149526047	chr5:116512821-116512822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574427987	chr5:116512833-116512834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543176245	chr5:116512875-116512876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79794857	chr5:116512928-116512929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191095038	chr5:116512955-116512956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117863008	chr5:116512990-116512991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528833061	chr5:116513004-116513005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569115627	chr5:116513008-116513009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144044493	chr5:116513047-116513048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139905645	chr5:116513066-116513067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114339912	chr5:116513090-116513091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550809718	chr5:116513091-116513092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570956561	chr5:116513093-116513094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533155261	chr5:116513104-116513105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541452764	chr5:116513127-116513128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559757147	chr5:116513130-116513131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142870739	chr5:116513141-116513142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565600578	chr5:116513154-116513155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7706447	chr5:116513164-116513165	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554722242	chr5:116513185-116513186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570474382	chr5:116513197-116513198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568177461	chr5:116513206-116513207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376416845	chr5:116513252-116513253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556759250	chr5:116513267-116513268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577059030	chr5:116513313-116513314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545805453	chr5:116513341-116513342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146102618	chr5:116513348-116513349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6887436	chr5:116513359-116513360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182517521	chr5:116513369-116513370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140074623	chr5:116513514-116513515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188382232	chr5:116513545-116513546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12153048	chr5:116513605-116513606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
39	rs17141226	chr5:116513698-116513699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564233729	chr5:116513702-116513703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190064857	chr5:116513714-116513715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546545599	chr5:116513716-116513717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182390769	chr5:116513722-116513723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528336444	chr5:116513761-116513762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548174485	chr5:116513768-116513769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568372139	chr5:116513777-116513778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536849077	chr5:116513780-116513781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10069214	chr5:116516001-116516002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143450894	chr5:116516026-116516027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62373903	chr5:116516052-116516053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116512600-116513800	Enhancers	HepG2	liver
2	chr5:116516000-116516200	Enhancers	Brain Anterior Caudate	brain
3	chr5:116516200-116517200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:116516600-116518200	Enhancers	Brain Hippocampus Middle	brain
5	chr5:116517200-116517400	Enhancers	Brain Angular Gyrus	brain
6	chr5:116517200-116518000	Enhancers	Brain Anterior Caudate	brain
7	chr5:116517200-116518000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:116517400-116517600	Enhancers	Brain Cingulate Gyrus	brain
9	chr5:116517400-116517800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:116517400-116517800	Enhancers	Brain Substantia Nigra	brain
11	chr5:116517600-116517800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr5:116517600-116518000	Enhancers	Adipose Nuclei	Adipose
13	chr5:116517600-116518000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr5:116517600-116519000	Weak transcription	Brain Angular Gyrus	brain
15	chr5:116517800-116518200	Active TSS	Brain Cingulate Gyrus	brain
16	chr5:116518000-116525000	Weak transcription	Brain Anterior Caudate	brain
17	chr5:116518200-116525200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:116519000-116519200	Enhancers	Brain Angular Gyrus	brain
19	chr5:116520200-116521000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:116520800-116521000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr5:116521600-116522000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:116523000-116524400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:116523400-116523600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:116523400-116524400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:116523600-116524000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:116524000-116524400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:116524000-116524400	Enhancers	Stomach Mucosa	stomach
28	chr5:116524400-116524600	Enhancers	Fetal Stomach	stomach
29	chr5:116524400-116524800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:116524600-116525600	Weak transcription	Fetal Stomach	stomach
31	chr5:116524800-116525200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:116525000-116525600	Enhancers	Brain Anterior Caudate	brain
33	chr5:116525000-116525600	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:116525000-116525600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr5:116525200-116525600	Enhancers	Brain Hippocampus Middle	brain
36	chr5:116525200-116525800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:116525200-116525800	Enhancers	Brain Substantia Nigra	brain
38	chr5:116525400-116526000	Enhancers	Brain Angular Gyrus	brain
39	chr5:116525400-116526400	Enhancers	Colon Smooth Muscle	Colon
40	chr5:116525600-116526400	Enhancers	Fetal Stomach	stomach
41	chr5:116526400-116530200	Weak transcription	Fetal Stomach	stomach
42	chr5:116530200-116531000	Enhancers	Fetal Stomach	stomach
43	chr5:116530200-116532000	Enhancers	Fetal Lung	lung
44	chr5:116532000-116536400	Weak transcription	Fetal Lung	lung
45	chr5:116535200-116536800	Enhancers	Primary hematopoietic stem cells	blood
46	chr5:116536000-116538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:116536200-116536600	Enhancers	Stomach Smooth Muscle	stomach
48	chr5:116536200-116537400	Enhancers	Colon Smooth Muscle	Colon
49	chr5:116536400-116537000	Enhancers	Rectal Smooth Muscle	rectum
50	chr5:116536400-116537400	Enhancers	Fetal Lung	lung

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