Variant report

Variant	nsv499245
Chromosome Location	chr5:107619303-107629595
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	chr5:107629129..107630886-chr5:107639365..107641581,2	K562	blood:

Extended variants
information (count: 438 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541983387	chr5:107619308-107619309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374967648	chr5:107619319-107619320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552683953	chr5:107619325-107619326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572434945	chr5:107619341-107619342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111354644	chr5:107619362-107619363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549816337	chr5:107619377-107619378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564268232	chr5:107619525-107619526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369124980	chr5:107619558-107619559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543697850	chr5:107619570-107619571	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190797289	chr5:107619648-107619649	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146121882	chr5:107619663-107619664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs114350537	chr5:107619679-107619680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565800812	chr5:107619688-107619689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35758223	chr5:107619702-107619703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs571233568	chr5:107619742-107619743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs116455741	chr5:107619784-107619785	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs183132173	chr5:107619804-107619805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547588127	chr5:107619837-107619838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs570672474	chr5:107619892-107619893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140097559	chr5:107619922-107619923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs532271066	chr5:107619953-107619954	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556414389	chr5:107619957-107619958	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs570234633	chr5:107619977-107619978	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535880088	chr5:107619996-107619997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568007872	chr5:107620094-107620095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79019304	chr5:107620120-107620121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs547159989	chr5:107620142-107620143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs372580137	chr5:107620173-107620174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs146794601	chr5:107620174-107620175	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541489651	chr5:107620221-107620222	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557991869	chr5:107620227-107620228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556637482	chr5:107620245-107620246	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2941697	chr5:107620246-107620247	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577972954	chr5:107620251-107620252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs185133079	chr5:107620264-107620265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563628638	chr5:107620265-107620266	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573838039	chr5:107620271-107620272	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542654539	chr5:107620280-107620281	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539633081	chr5:107620346-107620347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559040900	chr5:107620361-107620362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs555105247	chr5:107620365-107620366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs72791264	chr5:107620376-107620377	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs368973512	chr5:107620438-107620439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112926757	chr5:107620521-107620522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528183960	chr5:107620522-107620523	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370303024	chr5:107620539-107620540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542459898	chr5:107620606-107620607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs2966824	chr5:107620630-107620631	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2966825	chr5:107620668-107620669	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549949826	chr5:107620670-107620671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107604800-107644400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:107612400-107624600	Weak transcription	Aorta	Aorta
3	chr5:107614600-107627000	Weak transcription	Fetal Heart	heart
4	chr5:107615000-107705600	Weak transcription	Left Ventricle	heart
5	chr5:107615200-107660400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:107616800-107631200	Weak transcription	Stomach Mucosa	stomach
7	chr5:107617400-107619800	Weak transcription	Liver	Liver
8	chr5:107617800-107619600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:107618000-107620200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:107618200-107619800	Weak transcription	Primary B cells from cord blood	blood
11	chr5:107618200-107620600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:107618200-107628400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:107619400-107620400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:107619400-107620600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr5:107619600-107631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:107619800-107620600	ZNF genes & repeats	Liver	Liver
17	chr5:107619800-107620800	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr5:107620400-107640800	Weak transcription	Primary T cells from cord blood	blood
19	chr5:107620600-107678600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:107620800-107643600	Weak transcription	Primary B cells from cord blood	blood
21	chr5:107622800-107623200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:107623200-107623600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:107623600-107624600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:107624600-107625200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:107624800-107625400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:107625000-107625400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:107625200-107625400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:107625400-107628200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:107625400-107630400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:107627000-107627200	Enhancers	Fetal Heart	heart
31	chr5:107627200-107627400	Weak transcription	Fetal Heart	heart
32	chr5:107628200-107628400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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