Variant report

Variant	nsv599120
Chromosome Location	chr5:98469901-98488261
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	chr5:98264688..98266479-chr5:98468438..98470812,2	K562	blood:
2	chr5:98469162..98471809-chr5:98495145..98496723,2	K562	blood:

Variant related genes	Relation type
ENSG00000248489	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9327990	chr5:98469901-98469902	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7725663	chr5:98469929-98469930	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138539299	chr5:98469954-98469955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570849090	chr5:98470002-98470003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186769044	chr5:98470006-98470007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7718741	chr5:98470008-98470009	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73773645	chr5:98470026-98470027	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs57877167	chr5:98470081-98470082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536411202	chr5:98470128-98470129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554247510	chr5:98470137-98470138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572650452	chr5:98470151-98470152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564819035	chr5:98470153-98470154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116256180	chr5:98470172-98470173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576752464	chr5:98470207-98470208	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544602942	chr5:98470227-98470228	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10434797	chr5:98470249-98470250	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs60069415	chr5:98470252-98470253	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577721162	chr5:98470265-98470266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113850745	chr5:98470266-98470267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75921604	chr5:98470278-98470279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78258688	chr5:98470280-98470281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78515374	chr5:98470281-98470282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1348926	chr5:98470314-98470315	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs191989336	chr5:98470320-98470321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527825569	chr5:98470336-98470337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375591693	chr5:98470362-98470363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1348927	chr5:98470369-98470370	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570885544	chr5:98470400-98470401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184010722	chr5:98470406-98470407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575255147	chr5:98470433-98470434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs149651361	chr5:98470468-98470469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569086963	chr5:98470538-98470539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144226452	chr5:98470574-98470575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148725185	chr5:98470607-98470608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186073843	chr5:98470610-98470611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1542205	chr5:98470623-98470624	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs111416517	chr5:98470631-98470632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190975361	chr5:98470632-98470633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572742293	chr5:98470634-98470635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182103171	chr5:98470783-98470784	Inactive region	Chromatin interactive region	1 gene(s)	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	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
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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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