Variant report

Variant	nsv599610
Chromosome Location	chr5:120424662-120460548
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	chr5:120430789..120432374-chr5:120435217..120437128,2	K562	blood:
3	chr5:120435633..120438376-chr5:120443596..120446057,2	MCF-7	breast:
4	chr5:120435633..120438376-chr5:120443596..120446057,2	MCF-7	breast:
5	chr5:120449899..120451786-chr5:120452739..120454812,2	K562	blood:
6	chr5:120449899..120451786-chr5:120452739..120454812,2	K562	blood:

Extended variants
information (count: 448 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:448 , 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	rs11960097	chr5:120424662-120424663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35431298	chr5:120424673-120424674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530479206	chr5:120424702-120424703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75418733	chr5:120424713-120424714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4145736	chr5:120424719-120424720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116701136	chr5:120424741-120424742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs36004236	chr5:120424880-120424881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546070361	chr5:120424888-120424889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143002201	chr5:120424897-120424898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35106904	chr5:120424901-120424902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546807784	chr5:120424947-120424948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369126490	chr5:120424966-120424967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571332131	chr5:120425047-120425048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182406852	chr5:120425147-120425148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186767714	chr5:120425157-120425158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575241396	chr5:120425158-120425159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10069124	chr5:120425174-120425175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536197651	chr5:120425198-120425199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143976840	chr5:120425246-120425247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200109025	chr5:120425280-120425281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201131798	chr5:120425288-120425289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67152381	chr5:120425290-120425291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367561829	chr5:120425293-120425294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148193165	chr5:120425306-120425307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs966453	chr5:120425307-120425308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190685747	chr5:120425323-120425324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565522783	chr5:120425353-120425354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549542740	chr5:120425377-120425378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577356870	chr5:120425380-120425381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532239148	chr5:120425385-120425386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544899864	chr5:120425386-120425387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562993948	chr5:120425394-120425395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397819452	chr5:120425396-120425397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs966452	chr5:120425411-120425412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs74318462	chr5:120425428-120425429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560852391	chr5:120425443-120425444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184225989	chr5:120425500-120425501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73789535	chr5:120425502-120425503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528222280	chr5:120425531-120425532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568471546	chr5:120425539-120425540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571457748	chr5:120425544-120425545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538413479	chr5:120425556-120425557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549565996	chr5:120425595-120425596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140238811	chr5:120425601-120425602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377644204	chr5:120425657-120425658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377495077	chr5:120425658-120425659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56816041	chr5:120425661-120425662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536127779	chr5:120425679-120425680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554574494	chr5:120425689-120425690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369127498	chr5:120425695-120425696	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120424400-120425400	Weak transcription	Dnd41	blood
2	chr5:120425400-120427000	Enhancers	Dnd41	blood
3	chr5:120440400-120440800	Enhancers	Spleen	Spleen
4	chr5:120442200-120442800	ZNF genes & repeats	Dnd41	blood
5	chr5:120442800-120444000	Weak transcription	Dnd41	blood
6	chr5:120443000-120447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:120443400-120445000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:120443800-120444000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:120444000-120444400	ZNF genes & repeats	Dnd41	blood
10	chr5:120444000-120444600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr5:120444000-120444600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:120444000-120444800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:120444200-120444400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:120444200-120444600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:120444400-120444600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:120444400-120444800	Enhancers	Placenta	Placenta
17	chr5:120444400-120444800	Active TSS	Hela-S3	cervix
18	chr5:120444400-120445600	Enhancers	Dnd41	blood
19	chr5:120444600-120444800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:120445000-120449000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:120447600-120447800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:120449000-120449600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:120449600-120450200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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