Variant report

Variant	nsv599124
Chromosome Location	chr5:98523802-98598475
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	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:
2	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:

Extended variants
information (count: 769 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35091757	chr5:98523802-98523803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150363243	chr5:98523806-98523807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12108959	chr5:98523839-98523840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75124579	chr5:98523844-98523845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189014435	chr5:98523845-98523846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181665745	chr5:98523846-98523847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34245046	chr5:98523894-98523895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570438896	chr5:98523895-98523896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531353711	chr5:98523918-98523919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549338928	chr5:98523929-98523930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74538039	chr5:98523942-98523943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562742110	chr5:98524006-98524007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535712595	chr5:98524017-98524018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554036991	chr5:98524018-98524019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113029775	chr5:98524035-98524036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553087091	chr5:98524053-98524054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558263752	chr5:98524065-98524066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56194718	chr5:98524100-98524101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367654667	chr5:98524112-98524113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373345389	chr5:98524125-98524126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149123424	chr5:98524158-98524159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62373488	chr5:98524175-98524176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574792799	chr5:98524179-98524180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143020098	chr5:98524188-98524189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573324207	chr5:98524241-98524242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138541743	chr5:98524276-98524277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527434047	chr5:98524308-98524309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527863111	chr5:98524371-98524372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113425181	chr5:98524372-98524373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72777436	chr5:98524395-98524396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531263199	chr5:98524454-98524455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187304587	chr5:98524476-98524477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2369629	chr5:98524496-98524497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192101128	chr5:98524514-98524515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567761667	chr5:98524527-98524528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199711350	chr5:98524534-98524535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528852297	chr5:98524543-98524544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114762564	chr5:98524548-98524549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35490691	chr5:98524580-98524581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145566374	chr5:98524700-98524701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566229354	chr5:98524763-98524764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7715226	chr5:98524787-98524788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11745889	chr5:98524792-98524793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2887526	chr5:98524812-98524813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570139782	chr5:98524836-98524837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1374663	chr5:98524874-98524875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555889583	chr5:98524886-98524887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574129884	chr5:98525021-98525022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535000236	chr5:98525047-98525048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566044783	chr5:98525086-98525087	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	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98523400-98524000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:98523400-98524000	Enhancers	HUVEC	blood vessel
3	chr5:98524000-98526800	Weak transcription	HUVEC	blood vessel
4	chr5:98526600-98526800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:98526600-98528000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:98526600-98528000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:98526800-98528000	Enhancers	HUVEC	blood vessel
8	chr5:98527000-98527800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:98527000-98527800	Enhancers	NH-A	brain
10	chr5:98574200-98579200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:98576600-98577200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:98578800-98579600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:98579200-98582800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:98582800-98584000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:98583000-98583600	Enhancers	Fetal Muscle Leg	muscle
16	chr5:98583400-98584200	Enhancers	HUVEC	blood vessel
17	chr5:98584000-98584400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:98584400-98584800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:98589400-98592400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:98591200-98591800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:98592400-98593000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:98593000-98593200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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