Variant report

Variant	nsv599281
Chromosome Location	chr5:104639792-104688954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:104645770..104648035-chr5:104661663..104663662,2	MCF-7	breast:
2	chr5:104660610..104663385-chr5:104663843..104665843,2	K562	blood:
3	chr5:104679097..104680828-chr5:104708980..104711591,2	K562	blood:
4	chr5:104682524..104684533-chr5:104692732..104695457,2	MCF-7	breast:
5	chr5:104660610..104663385-chr5:104663843..104665843,2	K562	blood:
6	chr5:104682989..104685447-chr5:104726579..104728705,2	K562	blood:
7	chr5:104645770..104648035-chr5:104661663..104663662,2	MCF-7	breast:
8	chr5:104649160..104650852-chr5:104651591..104654211,3	K562	blood:
9	chr5:103843512..103846064-chr5:104654970..104657716,2	K562	blood:
10	chr5:104686842..104688917-chr5:104691899..104693400,2	K562	blood:
11	chr5:104649160..104650852-chr5:104651591..104654211,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251574	chromatin interactions

Extended variants
information (count: 273 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:273 , 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	rs1280467	chr5:104649613-104649614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540367292	chr5:104649620-104649621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559880912	chr5:104649659-104649660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148789911	chr5:104649662-104649663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373193441	chr5:104649685-104649686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111439762	chr5:104649708-104649709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376873523	chr5:104649730-104649731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563199552	chr5:104649748-104649749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570572131	chr5:104649749-104649750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74538170	chr5:104649751-104649752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199589329	chr5:104649765-104649766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183565777	chr5:104649767-104649768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs67001117	chr5:104649769-104649770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61594411	chr5:104649771-104649772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188346069	chr5:104649773-104649774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570743318	chr5:104649776-104649777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71622896	chr5:104649783-104649784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539468691	chr5:104649796-104649797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181173111	chr5:104649797-104649798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554326669	chr5:104655223-104655224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12515306	chr5:104655232-104655233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6891800	chr5:104655261-104655262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183064725	chr5:104655267-104655268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556765591	chr5:104655380-104655381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576948734	chr5:104655395-104655396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151285644	chr5:104655399-104655400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78835457	chr5:104655400-104655401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs36117570	chr5:104655401-104655402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369392184	chr5:104655411-104655412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116137331	chr5:104655424-104655425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561995790	chr5:104655426-104655427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529298826	chr5:104655452-104655453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527783956	chr5:104655456-104655457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549680432	chr5:104655458-104655459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547517098	chr5:104655466-104655467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564116665	chr5:104655468-104655469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187834582	chr5:104655469-104655470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191136391	chr5:104655471-104655472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569141979	chr5:104655496-104655497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184248330	chr5:104655528-104655529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546777587	chr5:104655529-104655530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548362020	chr5:104655573-104655574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187976285	chr5:104655602-104655603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111677818	chr5:104655618-104655619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545455807	chr5:104655624-104655625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559690739	chr5:104655630-104655631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140445863	chr5:104655721-104655722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553938330	chr5:104655758-104655759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192696359	chr5:104655768-104655769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185039546	chr5:104655789-104655790	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
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
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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104649600-104649800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:104655200-104655800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:104686200-104686400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:104686400-104689000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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