Variant report

Variant	esv3434869
Chromosome Location	chr5:68117677-68121030
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	chr5:68114798..68116440-chr5:68118714..68121093,2	K562	blood:
2	chr5:68119122..68120886-chr5:68132781..68135683,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534534381	chr5:68117712-68117713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73121033	chr5:68117744-68117745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538728461	chr5:68117758-68117759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537910059	chr5:68117776-68117777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568212862	chr5:68117799-68117800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574880277	chr5:68117836-68117837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535433361	chr5:68117925-68117926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553783697	chr5:68117926-68117927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185960254	chr5:68117936-68117937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572765161	chr5:68117937-68117938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561405884	chr5:68117975-68117976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16898225	chr5:68118029-68118030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76454423	chr5:68118043-68118044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557361792	chr5:68118182-68118183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144126349	chr5:68118210-68118211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1427905	chr5:68118222-68118223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562600982	chr5:68118262-68118263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369859589	chr5:68118303-68118304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529844910	chr5:68118319-68118320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192114966	chr5:68118325-68118326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560207783	chr5:68118357-68118358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527965018	chr5:68118390-68118391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552841027	chr5:68118423-68118424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371672273	chr5:68118452-68118453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553735072	chr5:68118464-68118465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183991648	chr5:68118476-68118477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199983002	chr5:68118510-68118511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200621150	chr5:68118511-68118512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201074107	chr5:68118513-68118514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550133052	chr5:68118529-68118530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568523429	chr5:68118613-68118614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114014218	chr5:68118622-68118623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186533199	chr5:68118639-68118640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539693930	chr5:68118652-68118653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572110088	chr5:68118662-68118663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141835850	chr5:68118665-68118666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190581228	chr5:68118694-68118695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150604744	chr5:68118696-68118697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544374418	chr5:68118699-68118700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575541310	chr5:68118726-68118727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139780644	chr5:68118809-68118810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201572834	chr5:68118862-68118863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112909647	chr5:68118863-68118864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560145509	chr5:68118867-68118868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369363895	chr5:68118896-68118897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551930134	chr5:68118916-68118917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564777591	chr5:68118936-68118937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531945098	chr5:68118950-68118951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372942836	chr5:68118973-68118974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550314552	chr5:68119032-68119033	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	17086460	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Lung cancer	17086460	CNVD
Prostate cancer	16461572	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68115200-68118600	Weak transcription	Brain Angular Gyrus	brain
2	chr5:68115400-68118200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:68117400-68118600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:68117400-68118600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:68117400-68118600	Weak transcription	Brain Substantia Nigra	brain
6	chr5:68118200-68118800	Enhancers	Fetal Kidney	kidney
7	chr5:68118200-68119200	Enhancers	HepG2	liver
8	chr5:68118200-68120200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:68118600-68118800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:68118600-68119000	Enhancers	Brain Angular Gyrus	brain
11	chr5:68118600-68119000	Enhancers	Brain Hippocampus Middle	brain
12	chr5:68118600-68119000	Enhancers	Brain Substantia Nigra	brain
13	chr5:68118800-68119800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:68119200-68119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:68119400-68119800	Enhancers	Adipose Nuclei	Adipose

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