Variant report

Variant	esv3387614
Chromosome Location	chr5:97269721-97272769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375610955	chr5:97269780-97269781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530585805	chr5:97269797-97269798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56011142	chr5:97269801-97269802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567067952	chr5:97269804-97269805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534866286	chr5:97269841-97269842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546806888	chr5:97269860-97269861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571882396	chr5:97269888-97269889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150068558	chr5:97269896-97269897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543016037	chr5:97269928-97269929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373453281	chr5:97269943-97269944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536694332	chr5:97269947-97269948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555081288	chr5:97269958-97269959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181797751	chr5:97269984-97269985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541190514	chr5:97269997-97269998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528407025	chr5:97269998-97269999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538239149	chr5:97270000-97270001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186769341	chr5:97270138-97270139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558645458	chr5:97270161-97270162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544983181	chr5:97270183-97270184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563640973	chr5:97270199-97270200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530420350	chr5:97270206-97270207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542242493	chr5:97270225-97270226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34211749	chr5:97270248-97270249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528195757	chr5:97270288-97270289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373535400	chr5:97270299-97270300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546742566	chr5:97270311-97270312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74372677	chr5:97270463-97270464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532784692	chr5:97270471-97270472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146641045	chr5:97270504-97270505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376395677	chr5:97270526-97270527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569564088	chr5:97270539-97270540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35780177	chr5:97270545-97270546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79195119	chr5:97270611-97270612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566942029	chr5:97270702-97270703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534287914	chr5:97270715-97270716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553089877	chr5:97270794-97270795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13160151	chr5:97270797-97270798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71580793	chr5:97270833-97270834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373358473	chr5:97270867-97270868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549564802	chr5:97270893-97270894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373756941	chr5:97270894-97270895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552970991	chr5:97270918-97270919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544729672	chr5:97270944-97270945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544434703	chr5:97270993-97270994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113631137	chr5:97271002-97271003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190609020	chr5:97271036-97271037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546904676	chr5:97271048-97271049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567412073	chr5:97271063-97271064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376692449	chr5:97271075-97271076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371596433	chr5:97271129-97271130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	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
Breast cancer	21611746	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97265800-97271800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:97271800-97272200	Enhancers	Adipose Nuclei	Adipose
3	chr5:97271800-97272200	Enhancers	Brain Cingulate Gyrus	brain
4	chr5:97271800-97272200	Enhancers	Fetal Lung	lung
5	chr5:97271800-97272400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:97271800-97272400	Enhancers	Brain Substantia Nigra	brain
7	chr5:97271800-97272600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:97271800-97272800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:97272000-97272200	Enhancers	NHDF-Ad	bronchial
10	chr5:97272000-97272400	Enhancers	Brain Angular Gyrus	brain
11	chr5:97272000-97272800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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