Variant report

Variant	nsv968211
Chromosome Location	chr5:74596362-74604577
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	chr5:74601851..74604093-chr5:74606288..74608285,2	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 85 )

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	rs28864992	chr5:74598804-74598805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185355441	chr5:74598825-74598826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111396182	chr5:74598836-74598837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181896261	chr5:74598839-74598840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563674801	chr5:74598840-74598841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112632893	chr5:74598846-74598847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114089689	chr5:74598875-74598876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71627089	chr5:74598895-74598896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184928059	chr5:74598910-74598911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527404307	chr5:74598911-74598912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542375710	chr5:74598974-74598975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547511768	chr5:74598983-74598984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77023294	chr5:74598995-74598996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533196337	chr5:74599044-74599045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76670507	chr5:74599093-74599094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569987337	chr5:74599102-74599103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138968180	chr5:74599107-74599108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145401164	chr5:74599194-74599195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188130671	chr5:74599201-74599202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138910061	chr5:74599256-74599257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566103155	chr5:74599349-74599350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558006253	chr5:74599360-74599361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559710043	chr5:74599390-74599391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571394200	chr5:74599408-74599409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74907988	chr5:74599438-74599439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6864784	chr5:74599457-74599458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574255996	chr5:74599485-74599486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543266544	chr5:74599505-74599506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553381764	chr5:74599530-74599531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149373366	chr5:74599577-74599578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533621696	chr5:74599580-74599581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541012281	chr5:74599584-74599585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369193811	chr5:74600020-74600021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531416200	chr5:74600031-74600032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572983368	chr5:74600186-74600187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545111943	chr5:74600201-74600202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537102204	chr5:74600227-74600228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142826916	chr5:74600259-74600260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557144132	chr5:74600288-74600289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567889624	chr5:74600380-74600381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573631016	chr5:74600381-74600382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548337243	chr5:74600463-74600464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553662040	chr5:74600475-74600476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186280666	chr5:74600488-74600489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541049286	chr5:74600518-74600519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568291697	chr5:74600536-74600537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148513820	chr5:74600542-74600543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191473942	chr5:74600585-74600586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543580711	chr5:74600600-74600601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563232233	chr5:74600612-74600613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Spinal muscular atrophy	21762474	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74598800-74599600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:74600000-74602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:74601200-74604000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:74601400-74602400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:74602400-74606400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:74602600-74602800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:74602800-74607400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:74604000-74606400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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