Variant report

Variant	esv3348318
Chromosome Location	chr5:97400396-97403894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187638917	chr5:97400415-97400416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148733276	chr5:97400434-97400435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368090232	chr5:97400499-97400500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79847073	chr5:97400512-97400513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs257215	chr5:97400521-97400522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535790069	chr5:97400550-97400551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552943072	chr5:97400562-97400563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35321848	chr5:97400563-97400564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565466014	chr5:97400567-97400568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77849316	chr5:97400572-97400573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72767640	chr5:97400627-97400628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544504449	chr5:97400666-97400667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17088004	chr5:97400688-97400689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530338740	chr5:97400732-97400733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193044094	chr5:97400825-97400826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560162087	chr5:97400830-97400831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527771153	chr5:97400878-97400879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144658446	chr5:97400940-97400941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147875584	chr5:97400966-97400967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571088347	chr5:97400968-97400969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538798306	chr5:97401015-97401016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550516797	chr5:97401033-97401034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143012409	chr5:97401068-97401069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368015767	chr5:97401074-97401075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569091076	chr5:97401076-97401077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140220488	chr5:97401253-97401254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73775110	chr5:97401262-97401263	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs151106471	chr5:97401301-97401302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554544319	chr5:97401357-97401358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572913787	chr5:97401375-97401376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533853998	chr5:97401418-97401419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185645578	chr5:97401442-97401443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188870383	chr5:97401443-97401444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377247915	chr5:97401563-97401564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200650111	chr5:97401564-97401565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534767763	chr5:97401713-97401714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575076080	chr5:97401775-97401776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568024609	chr5:97401811-97401812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34681598	chr5:97401834-97401835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58683537	chr5:97401956-97401957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192363249	chr5:97401982-97401983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35474494	chr5:97402048-97402049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115282201	chr5:97402051-97402052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552175587	chr5:97402058-97402059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564206492	chr5:97402102-97402103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199783818	chr5:97402135-97402136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115144015	chr5:97402136-97402137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141054364	chr5:97402139-97402140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150232484	chr5:97402154-97402155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144951331	chr5:97402166-97402167	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
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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97398600-97401800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:97399200-97401400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:97399400-97400400	Enhancers	Brain Cingulate Gyrus	brain
4	chr5:97399800-97400600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:97400000-97400400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:97400000-97400400	Enhancers	Brain Germinal Matrix	brain
7	chr5:97400000-97401400	Enhancers	Brain Substantia Nigra	brain
8	chr5:97400200-97400400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:97400200-97400800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:97400200-97401400	Enhancers	NHDF-Ad	bronchial
11	chr5:97400200-97401600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:97400800-97401400	Enhancers	Brain Hippocampus Middle	brain
13	chr5:97400800-97404000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:97401200-97401600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:97401200-97401600	Enhancers	Osteobl	bone
16	chr5:97401400-97402800	Weak transcription	NHDF-Ad	bronchial
17	chr5:97401600-97402600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:97402600-97403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:97402800-97403200	Enhancers	NHDF-Ad	bronchial

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