Variant report

Variant	nsv5053
Chromosome Location	chr5:146386132-146412546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 920 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545780614	chr5:146386134-146386135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552994341	chr5:146386141-146386142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188409580	chr5:146386166-146386167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182242586	chr5:146386169-146386170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541759224	chr5:146386171-146386172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561852557	chr5:146386234-146386235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575370950	chr5:146386281-146386282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544081370	chr5:146386298-146386299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564168612	chr5:146386303-146386304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533100400	chr5:146386310-146386311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546615809	chr5:146386324-146386325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141082923	chr5:146386395-146386396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528912445	chr5:146386419-146386420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185635574	chr5:146386436-146386437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190051763	chr5:146386437-146386438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537608477	chr5:146386440-146386441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181749676	chr5:146386441-146386442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186023849	chr5:146386513-146386514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558987261	chr5:146386631-146386632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116570448	chr5:146386704-146386705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115957995	chr5:146386707-146386708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13362410	chr5:146386720-146386721	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144883045	chr5:146386738-146386739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555591471	chr5:146386739-146386740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575460319	chr5:146386743-146386744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544386847	chr5:146386744-146386745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190024417	chr5:146386748-146386749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577796417	chr5:146386761-146386762	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540296961	chr5:146386806-146386807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377740383	chr5:146386826-146386827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560310700	chr5:146386829-146386830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55675734	chr5:146386835-146386836	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574938591	chr5:146386838-146386839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548708779	chr5:146386846-146386847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562395254	chr5:146386879-146386880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539101897	chr5:146386915-146386916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531153249	chr5:146386930-146386931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543845546	chr5:146386932-146386933	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551130191	chr5:146386998-146386999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371147648	chr5:146387008-146387009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570748522	chr5:146387018-146387019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539663129	chr5:146387032-146387033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550734439	chr5:146387080-146387081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546662323	chr5:146387095-146387096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566630467	chr5:146387137-146387138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535418734	chr5:146387139-146387140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555521093	chr5:146387170-146387171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575492525	chr5:146387230-146387231	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181311691	chr5:146387233-146387234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140363054	chr5:146387250-146387251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146374400-146394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:146375800-146395600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr5:146380000-146387600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:146381400-146390000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:146382000-146395000	Weak transcription	Brain Anterior Caudate	brain
6	chr5:146383800-146387800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:146386200-146388200	Weak transcription	Brain Substantia Nigra	brain
8	chr5:146387600-146389000	Enhancers	Brain Hippocampus Middle	brain
9	chr5:146388200-146388400	Enhancers	Brain Substantia Nigra	brain
10	chr5:146388400-146389800	Weak transcription	Brain Substantia Nigra	brain
11	chr5:146389000-146394800	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:146389800-146390600	Enhancers	Brain Substantia Nigra	brain
13	chr5:146390000-146390600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr5:146390600-146395000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:146390600-146395600	Weak transcription	Brain Substantia Nigra	brain
16	chr5:146394600-146394800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:146394600-146395200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:146394600-146395200	Enhancers	Brain Angular Gyrus	brain
19	chr5:146394800-146396400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:146394800-146396600	Enhancers	Brain Hippocampus Middle	brain
21	chr5:146395000-146395200	Enhancers	Brain Anterior Caudate	brain
22	chr5:146395000-146395200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr5:146395200-146395600	Weak transcription	Brain Anterior Caudate	brain
24	chr5:146395200-146395600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:146395200-146396400	Weak transcription	Brain Angular Gyrus	brain
26	chr5:146395200-146396600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:146395600-146395800	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:146395600-146396800	Enhancers	Brain Anterior Caudate	brain
29	chr5:146395600-146397600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:146395600-146399600	Enhancers	Brain Substantia Nigra	brain
31	chr5:146395800-146396200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:146396200-146399600	Enhancers	Brain Cingulate Gyrus	brain
33	chr5:146396400-146397600	Enhancers	Brain Angular Gyrus	brain
34	chr5:146396400-146398000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:146396400-146398400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:146396600-146396800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr5:146396600-146397400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:146396600-146399600	Enhancers	Rectal Smooth Muscle	rectum
39	chr5:146396800-146397000	Enhancers	Brain Hippocampus Middle	brain
40	chr5:146396800-146397200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr5:146396800-146397600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:146396800-146397600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:146396800-146398000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:146397000-146397200	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr5:146397000-146397600	Enhancers	Fetal Lung	lung
46	chr5:146397200-146397400	Enhancers	Brain Hippocampus Middle	brain
47	chr5:146397200-146397400	Enhancers	Colon Smooth Muscle	Colon
48	chr5:146397200-146397600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:146397200-146397600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:146397200-146397600	Enhancers	Brain Anterior Caudate	brain

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