Variant report

Variant	nsv968223
Chromosome Location	chr5:98727131-98771078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 277 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149029015	chr5:98734230-98734231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541612076	chr5:98734232-98734233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560202579	chr5:98734246-98734247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571798786	chr5:98734248-98734249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554613080	chr5:98734279-98734280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574568709	chr5:98734282-98734283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34607613	chr5:98734323-98734324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112269857	chr5:98734343-98734344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529102517	chr5:98734370-98734371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1851649	chr5:98734376-98734377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550468343	chr5:98734428-98734429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116565864	chr5:98734451-98734452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546136159	chr5:98734453-98734454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529496053	chr5:98734465-98734466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547663661	chr5:98734501-98734502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201314553	chr5:98734558-98734559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367732513	chr5:98734575-98734576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190290197	chr5:98734667-98734668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551832749	chr5:98734675-98734676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2963595	chr5:98734713-98734714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs386690435	chr5:98734718-98734719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147498461	chr5:98734719-98734720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182510460	chr5:98734775-98734776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62375878	chr5:98734801-98734802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187595568	chr5:98734828-98734829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191443892	chr5:98734842-98734843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545479010	chr5:98734852-98734853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116413865	chr5:98734899-98734900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17166919	chr5:98734928-98734929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148139643	chr5:98734954-98734955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184186754	chr5:98735013-98735014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2511918	chr5:98735015-98735016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1851648	chr5:98735072-98735073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188685603	chr5:98735117-98735118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559969025	chr5:98735120-98735121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533528637	chr5:98735121-98735122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538090546	chr5:98735224-98735225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192808304	chr5:98735270-98735271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2511916	chr5:98735309-98735310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556783101	chr5:98735415-98735416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183589628	chr5:98735418-98735419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1818865	chr5:98735420-98735421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568389934	chr5:98735434-98735435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535365489	chr5:98735460-98735461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553969196	chr5:98735469-98735470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186492057	chr5:98735477-98735478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539220082	chr5:98735517-98735518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557437038	chr5:98735522-98735523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575693737	chr5:98735529-98735530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543449386	chr5:98735584-98735585	Enhancers	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
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98734200-98735400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:98734200-98736600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:98734600-98735200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:98734800-98736800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:98744200-98746800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:98767600-98770200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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