Variant report

Variant	nsv528625
Chromosome Location	chr5:179618961-179625630
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	chr5:179622475..179625183-chr5:179637307..179639559,2	K562	blood:

Extended variants
information (count: 332 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11249682	chr5:179618961-179618962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528672644	chr5:179618983-179618984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546818316	chr5:179619016-179619017	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34351120	chr5:179619049-179619050	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182688297	chr5:179619059-179619060	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34570575	chr5:179619074-179619075	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185541148	chr5:179619084-179619085	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146364594	chr5:179619160-179619161	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138554494	chr5:179619182-179619183	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566582146	chr5:179619183-179619184	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7737438	chr5:179619222-179619223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs144458061	chr5:179619232-179619233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377626792	chr5:179619242-179619243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576882427	chr5:179619286-179619287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576560725	chr5:179619288-179619289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537513319	chr5:179619319-179619320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555764717	chr5:179619343-179619344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574075712	chr5:179619345-179619346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6601096	chr5:179619347-179619348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561238143	chr5:179619354-179619355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191087064	chr5:179619355-179619356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540822790	chr5:179619362-179619363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7719326	chr5:179619400-179619401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs544689538	chr5:179619406-179619407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79019095	chr5:179619455-179619456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142491535	chr5:179619554-179619555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147220958	chr5:179619615-179619616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566763621	chr5:179619626-179619627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6880031	chr5:179619654-179619655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6880032	chr5:179619657-179619658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182451271	chr5:179619665-179619666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6898339	chr5:179619672-179619673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555826110	chr5:179619679-179619680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6859090	chr5:179619681-179619682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535077801	chr5:179619682-179619683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187786099	chr5:179619692-179619693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6880061	chr5:179619730-179619731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540533261	chr5:179619732-179619733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202087310	chr5:179619750-179619751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59956150	chr5:179619751-179619752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200089262	chr5:179619752-179619753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201735553	chr5:179619767-179619768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559128785	chr5:179619772-179619773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193136287	chr5:179619796-179619797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183207378	chr5:179619806-179619807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544751061	chr5:179619811-179619812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140562226	chr5:179619820-179619821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530172048	chr5:179619830-179619831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542672409	chr5:179619869-179619870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187530672	chr5:179619908-179619909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179618200-179624400	Weak transcription	Fetal Brain Female	brain
2	chr5:179618800-179619400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179619000-179619200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:179620600-179635400	Weak transcription	Right Atrium	heart
5	chr5:179621000-179622600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:179621600-179622400	Enhancers	HepG2	liver
7	chr5:179621800-179622200	Enhancers	Spleen	Spleen
8	chr5:179621800-179622400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr5:179622000-179622400	Enhancers	Pancreas	Pancrea
10	chr5:179622400-179625000	Weak transcription	Pancreas	Pancrea
11	chr5:179622600-179624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:179624200-179624400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:179624200-179625000	Enhancers	Fetal Brain Male	brain
14	chr5:179624400-179624800	Enhancers	Fetal Brain Female	brain
15	chr5:179624400-179624800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr5:179625000-179625200	Active TSS	Pancreas	Pancrea

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