Variant report

Variant	nsv599618
Chromosome Location	chr5:120853669-120911071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:120873429..120875886-chr5:120876778..120878450,2	K562	blood:
2	chr5:120873429..120875886-chr5:120876778..120878450,2	K562	blood:
3	chr5:120597959..120600237-chr5:120894989..120897698,2	K562	blood:
4	chr5:120906813..120909196-chr5:120909743..120912728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244088	chromatin interactions

Extended variants
information (count: 364 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:364 , 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	rs17147959	chr5:120853669-120853670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182453919	chr5:120853715-120853716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528763242	chr5:120853764-120853765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150745603	chr5:120853779-120853780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540951271	chr5:120853783-120853784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565607788	chr5:120853794-120853795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62379188	chr5:120853828-120853829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551196781	chr5:120853832-120853833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567172918	chr5:120853865-120853866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17147961	chr5:120853882-120853883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7722012	chr5:120853928-120853929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186770988	chr5:120853933-120853934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11750922	chr5:120853959-120853960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs139170284	chr5:120853983-120853984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563446554	chr5:120860837-120860838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527520338	chr5:120860876-120860877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528078187	chr5:120860902-120860903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539893069	chr5:120860925-120860926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565142151	chr5:120860979-120860980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117701746	chr5:120860987-120860988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34924396	chr5:120861026-120861027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529943855	chr5:120861042-120861043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548687053	chr5:120861069-120861070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145493450	chr5:120861121-120861122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534196275	chr5:120861161-120861162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561842945	chr5:120861162-120861163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116242320	chr5:120861167-120861168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551662013	chr5:120864204-120864205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs148765338	chr5:120864221-120864222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs75204288	chr5:120864227-120864228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144972629	chr5:120864231-120864232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559714541	chr5:120864254-120864255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79098829	chr5:120864269-120864270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147534177	chr5:120864308-120864309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545667225	chr5:120864312-120864313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs9885396	chr5:120864326-120864327	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs531124957	chr5:120864359-120864360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549598936	chr5:120864381-120864382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545681845	chr5:120864492-120864493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192354190	chr5:120864507-120864508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184404376	chr5:120864517-120864518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564277325	chr5:120864523-120864524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561723366	chr5:120864559-120864560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188862975	chr5:120864591-120864592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547049229	chr5:120864592-120864593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs70985286	chr5:120864600-120864601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111885663	chr5:120869468-120869469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533081620	chr5:120869506-120869507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537644105	chr5:120869523-120869524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549672053	chr5:120869530-120869531	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120853200-120854000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:120860800-120861200	Enhancers	Hela-S3	cervix
3	chr5:120864200-120864400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:120864400-120864600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:120869400-120871000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:120869400-120871400	Enhancers	Fetal Heart	heart
7	chr5:120870000-120871200	Enhancers	Right Atrium	heart
8	chr5:120870200-120870800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:120870200-120871200	Enhancers	Left Ventricle	heart
10	chr5:120870400-120870800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:120870400-120871000	Enhancers	Right Ventricle	heart
12	chr5:120871000-120871200	Flanking Active TSS	Gastric	stomach
13	chr5:120880800-120881400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:120897200-120898000	ZNF genes & repeats	Dnd41	blood
15	chr5:120907400-120911000	Enhancers	Dnd41	blood
16	chr5:120908000-120908200	Enhancers	NH-A	brain
17	chr5:120909400-120910000	Enhancers	Fetal Lung	lung
18	chr5:120909600-120910000	Enhancers	Fetal Heart	heart
19	chr5:120909800-120910200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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