Variant report

Variant	nsv599612
Chromosome Location	chr5:120425411-120460548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:120430789..120432374-chr5:120435217..120437128,2	K562	blood:
2	chr5:120435633..120438376-chr5:120443596..120446057,2	MCF-7	breast:
3	chr5:120435633..120438376-chr5:120443596..120446057,2	MCF-7	breast:
4	chr5:120449899..120451786-chr5:120452739..120454812,2	K562	blood:
5	chr5:120430789..120432374-chr5:120435217..120437128,2	K562	blood:
6	chr5:120449899..120451786-chr5:120452739..120454812,2	K562	blood:

Extended variants
information (count: 415 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs966452	chr5:120425411-120425412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74318462	chr5:120425428-120425429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560852391	chr5:120425443-120425444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184225989	chr5:120425500-120425501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73789535	chr5:120425502-120425503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528222280	chr5:120425531-120425532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568471546	chr5:120425539-120425540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571457748	chr5:120425544-120425545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538413479	chr5:120425556-120425557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549565996	chr5:120425595-120425596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140238811	chr5:120425601-120425602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377644204	chr5:120425657-120425658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377495077	chr5:120425658-120425659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56816041	chr5:120425661-120425662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536127779	chr5:120425679-120425680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554574494	chr5:120425689-120425690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369127498	chr5:120425695-120425696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566527242	chr5:120425698-120425699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577275400	chr5:120425738-120425739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146953328	chr5:120425778-120425779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139273964	chr5:120425844-120425845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577372789	chr5:120425856-120425857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201507513	chr5:120425886-120425887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544451793	chr5:120425891-120425892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116736992	chr5:120425897-120425898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575244022	chr5:120425948-120425949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1345693	chr5:120425980-120425981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116447396	chr5:120425997-120425998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528080627	chr5:120426002-120426003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188825851	chr5:120426043-120426044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193209841	chr5:120426046-120426047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115923406	chr5:120426071-120426072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143183996	chr5:120426132-120426133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183117571	chr5:120426170-120426171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370288947	chr5:120426197-120426198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370926171	chr5:120426216-120426217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529985771	chr5:120426226-120426227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548073399	chr5:120426258-120426259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571540379	chr5:120426284-120426285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566536939	chr5:120426287-120426288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555773584	chr5:120426372-120426373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200511469	chr5:120426393-120426394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187406917	chr5:120426416-120426417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191896505	chr5:120426433-120426434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184083255	chr5:120426468-120426469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189644359	chr5:120426472-120426473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10063556	chr5:120426539-120426540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138516440	chr5:120426558-120426559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575083013	chr5:120426583-120426584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116643318	chr5:120426621-120426622	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Colorectal cancer	16272173	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120425400-120427000	Enhancers	Dnd41	blood
2	chr5:120440400-120440800	Enhancers	Spleen	Spleen
3	chr5:120442200-120442800	ZNF genes & repeats	Dnd41	blood
4	chr5:120442800-120444000	Weak transcription	Dnd41	blood
5	chr5:120443000-120447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:120443400-120445000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:120443800-120444000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:120444000-120444400	ZNF genes & repeats	Dnd41	blood
9	chr5:120444000-120444600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr5:120444000-120444600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:120444000-120444800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr5:120444200-120444400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr5:120444200-120444600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:120444400-120444600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr5:120444400-120444800	Enhancers	Placenta	Placenta
16	chr5:120444400-120444800	Active TSS	Hela-S3	cervix
17	chr5:120444400-120445600	Enhancers	Dnd41	blood
18	chr5:120444600-120444800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:120445000-120449000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:120447600-120447800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:120449000-120449600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:120449600-120450200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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