Variant report

Variant	nsv599615
Chromosome Location	chr5:120433392-120467519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:120449899..120451786-chr5:120452739..120454812,2	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	chr5:120466262..120468288-chr5:120477634..120479614,2	K562	blood:
5	chr5:120430789..120432374-chr5:120435217..120437128,2	K562	blood:
6	chr5:120466262..120468152-chr5:120477634..120479866,2	K562	blood:
7	chr5:120449899..120451786-chr5:120452739..120454812,2	K562	blood:

Extended variants
information (count: 395 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558225396	chr5:120440448-120440449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111496116	chr5:120440478-120440479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114987437	chr5:120440497-120440498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60169551	chr5:120440519-120440520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115487667	chr5:120440560-120440561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183108643	chr5:120440599-120440600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61554069	chr5:120440602-120440603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140826249	chr5:120440649-120440650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372720559	chr5:120440650-120440651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113997537	chr5:120440663-120440664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545253047	chr5:120440668-120440669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6886868	chr5:120440686-120440687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs369937612	chr5:120440705-120440706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531182560	chr5:120440711-120440712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6887326	chr5:120440755-120440756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544561784	chr5:120442223-120442224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12186977	chr5:120442233-120442234	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563488104	chr5:120442290-120442291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530722864	chr5:120442307-120442308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs28520764	chr5:120442321-120442322	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551914008	chr5:120442331-120442332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs149912449	chr5:120442361-120442362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112713795	chr5:120442402-120442403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs527784034	chr5:120442403-120442404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs73266560	chr5:120442411-120442412	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546576453	chr5:120442412-120442413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77262213	chr5:120442419-120442420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188459363	chr5:120442420-120442421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192681537	chr5:120442477-120442478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs567649952	chr5:120442578-120442579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs538169864	chr5:120442585-120442586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73266561	chr5:120442587-120442588	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184131997	chr5:120442593-120442594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10056259	chr5:120442657-120442658	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145961162	chr5:120442677-120442678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs10056317	chr5:120442704-120442705	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs201262025	chr5:120442719-120442720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200846237	chr5:120442720-120442721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200336871	chr5:120442721-120442722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559387094	chr5:120442724-120442725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139713558	chr5:120442732-120442733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs545046346	chr5:120442757-120442758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563340423	chr5:120442782-120442783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs10056219	chr5:120442784-120442785	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145752375	chr5:120442786-120442787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560886188	chr5:120442804-120442805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371478110	chr5:120442812-120442813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546637791	chr5:120442815-120442816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190639077	chr5:120442822-120442823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10056371	chr5:120442843-120442844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120440400-120440800	Enhancers	Spleen	Spleen
2	chr5:120442200-120442800	ZNF genes & repeats	Dnd41	blood
3	chr5:120442800-120444000	Weak transcription	Dnd41	blood
4	chr5:120443000-120447600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:120443400-120445000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:120443800-120444000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:120444000-120444400	ZNF genes & repeats	Dnd41	blood
8	chr5:120444000-120444600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr5:120444000-120444600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:120444000-120444800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr5:120444200-120444400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:120444200-120444600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:120444400-120444600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:120444400-120444800	Enhancers	Placenta	Placenta
15	chr5:120444400-120444800	Active TSS	Hela-S3	cervix
16	chr5:120444400-120445600	Enhancers	Dnd41	blood
17	chr5:120444600-120444800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:120445000-120449000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:120447600-120447800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:120449000-120449600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:120449600-120450200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:120463600-120464200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:120466400-120466800	Enhancers	Fetal Heart	heart

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