Variant report

Variant	nsv964934
Chromosome Location	chr5:124600863-124602044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41320050	chr5:124600904-124600905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545653921	chr5:124600928-124600929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146526760	chr5:124600932-124600933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528999843	chr5:124600948-124600949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575806983	chr5:124600966-124600967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541754013	chr5:124600981-124600982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374735405	chr5:124600982-124600983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544410153	chr5:124600988-124600989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139094032	chr5:124601000-124601001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62373302	chr5:124601017-124601018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548563771	chr5:124601022-124601023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80074700	chr5:124601032-124601033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528005583	chr5:124601033-124601034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545647888	chr5:124601050-124601051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77018299	chr5:124601051-124601052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571083031	chr5:124601094-124601095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538419034	chr5:124601104-124601105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549651427	chr5:124601111-124601112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557746067	chr5:124601118-124601119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568145037	chr5:124601160-124601161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17152511	chr5:124601166-124601167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143136686	chr5:124601254-124601255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376976648	chr5:124601267-124601268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571675389	chr5:124601282-124601283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111500470	chr5:124601296-124601297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561612485	chr5:124601358-124601359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185320265	chr5:124601368-124601369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147448984	chr5:124601382-124601383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188187511	chr5:124601412-124601413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369020523	chr5:124601441-124601442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192674453	chr5:124601454-124601455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573757504	chr5:124601474-124601475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372177632	chr5:124601501-124601502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79725033	chr5:124601502-124601503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13172476	chr5:124601522-124601523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4836166	chr5:124601528-124601529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560747612	chr5:124601529-124601530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576338170	chr5:124601546-124601547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546186188	chr5:124601563-124601564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184866861	chr5:124601576-124601577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112249106	chr5:124601621-124601622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79447560	chr5:124601666-124601667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571031049	chr5:124601677-124601678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28735667	chr5:124601706-124601707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550244400	chr5:124601713-124601714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62373303	chr5:124601729-124601730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541589738	chr5:124601740-124601741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529067894	chr5:124601758-124601759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547216382	chr5:124601787-124601788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150601858	chr5:124601796-124601797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124593200-124609200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:124599600-124601800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:124599600-124608600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:124599600-124608600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:124599800-124613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:124600200-124603400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:124600400-124601000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:124600800-124601000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:124600800-124602000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:124601200-124602200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:124602000-124602800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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