Variant report

Variant	esv3413887
Chromosome Location	chr5:88642540-88643663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:88635504..88637317-chr5:88641976..88643496,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61418152	chr5:88642541-88642542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544253684	chr5:88642588-88642589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140823805	chr5:88642603-88642604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542612347	chr5:88642604-88642605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562455527	chr5:88642624-88642625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531465827	chr5:88642626-88642627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374186866	chr5:88642643-88642644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551499580	chr5:88642664-88642665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552125270	chr5:88642689-88642690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75637362	chr5:88642697-88642698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527455370	chr5:88642700-88642701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547673891	chr5:88642768-88642769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567413281	chr5:88642781-88642782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536123960	chr5:88642853-88642854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377217280	chr5:88642855-88642856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34002290	chr5:88642874-88642875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398065016	chr5:88642875-88642876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549790679	chr5:88642894-88642895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568528904	chr5:88642909-88642910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537707759	chr5:88642958-88642959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60547706	chr5:88643057-88643058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184456819	chr5:88643058-88643059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111976719	chr5:88643078-88643079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534876706	chr5:88643089-88643090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555262540	chr5:88643105-88643106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140166074	chr5:88643121-88643122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544109374	chr5:88643136-88643137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150070211	chr5:88643145-88643146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188272773	chr5:88643146-88643147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545135005	chr5:88643160-88643161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564782645	chr5:88643213-88643214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527554048	chr5:88643214-88643215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547309573	chr5:88643240-88643241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561115113	chr5:88643243-88643244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs173532	chr5:88643275-88643276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113676526	chr5:88643319-88643320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59818178	chr5:88643325-88643326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181405396	chr5:88643328-88643329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71629712	chr5:88643330-88643331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115363826	chr5:88643399-88643400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185715442	chr5:88643401-88643402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538599496	chr5:88643434-88643435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16867554	chr5:88643493-88643494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566007683	chr5:88643592-88643593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535104247	chr5:88643612-88643613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554896191	chr5:88643621-88643622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575085177	chr5:88643640-88643641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188568436	chr5:88643641-88643642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	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
Ovarian cancer	21720365	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
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88635600-88646400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:88638400-88647000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:88639800-88643400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:88639800-88644400	Weak transcription	Brain Germinal Matrix	brain
5	chr5:88639800-88647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:88642400-88642600	Enhancers	Primary B cells from peripheral blood	blood

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