Variant report

Variant	esv3468503
Chromosome Location	chr5:97399596-97404594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566695096	chr5:97399609-97399610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561983862	chr5:97399636-97399637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559001061	chr5:97399715-97399716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575230521	chr5:97399732-97399733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138785218	chr5:97399733-97399734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186747147	chr5:97399750-97399751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76462249	chr5:97399832-97399833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17087999	chr5:97399833-97399834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190442624	chr5:97399844-97399845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532849663	chr5:97399846-97399847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34268375	chr5:97399858-97399859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71979675	chr5:97399859-97399860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371070281	chr5:97399862-97399863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373519448	chr5:97399873-97399874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201353237	chr5:97399875-97399876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551294785	chr5:97399921-97399922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76961667	chr5:97399929-97399930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72767638	chr5:97400013-97400014	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548309343	chr5:97400036-97400037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182601490	chr5:97400060-97400061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529956050	chr5:97400076-97400077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566918582	chr5:97400104-97400105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534032664	chr5:97400117-97400118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546388022	chr5:97400151-97400152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73775109	chr5:97400153-97400154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571149866	chr5:97400191-97400192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533388691	chr5:97400206-97400207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538530598	chr5:97400226-97400227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557250123	chr5:97400256-97400257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575470828	chr5:97400337-97400338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144288320	chr5:97400390-97400391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187638917	chr5:97400415-97400416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148733276	chr5:97400434-97400435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368090232	chr5:97400499-97400500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79847073	chr5:97400512-97400513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs257215	chr5:97400521-97400522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535790069	chr5:97400550-97400551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552943072	chr5:97400562-97400563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35321848	chr5:97400563-97400564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565466014	chr5:97400567-97400568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77849316	chr5:97400572-97400573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72767640	chr5:97400627-97400628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544504449	chr5:97400666-97400667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17088004	chr5:97400688-97400689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530338740	chr5:97400732-97400733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193044094	chr5:97400825-97400826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560162087	chr5:97400830-97400831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527771153	chr5:97400878-97400879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144658446	chr5:97400940-97400941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147875584	chr5:97400966-97400967	Enhancers 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:23 , 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	chr5:97399200-97400200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:97399200-97401400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:97399400-97400400	Enhancers	Brain Cingulate Gyrus	brain
5	chr5:97399800-97400200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:97399800-97400600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:97400000-97400400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:97400000-97400400	Enhancers	Brain Germinal Matrix	brain
9	chr5:97400000-97401400	Enhancers	Brain Substantia Nigra	brain
10	chr5:97400200-97400400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr5:97400200-97400800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:97400200-97401400	Enhancers	NHDF-Ad	bronchial
13	chr5:97400200-97401600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:97400800-97401400	Enhancers	Brain Hippocampus Middle	brain
15	chr5:97400800-97404000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:97401200-97401600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:97401200-97401600	Enhancers	Osteobl	bone
18	chr5:97401400-97402800	Weak transcription	NHDF-Ad	bronchial
19	chr5:97401600-97402600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:97402600-97403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:97402800-97403200	Enhancers	NHDF-Ad	bronchial
22	chr5:97404000-97405200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:97404200-97404600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links