Variant report

Variant	nsv594254
Chromosome Location	chr4:60529232-60609054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:60543813..60546033-chr4:60553313..60556008,2	K562	blood:
2	chr4:60563079..60565570-chr4:60567282..60570402,3	K562	blood:
3	chr4:60543813..60546033-chr4:60553313..60556008,2	K562	blood:
4	chr4:60577410..60579397-chr4:60579739..60581756,2	K562	blood:
5	chr4:60577410..60579397-chr4:60579739..60581756,2	K562	blood:
6	chr4:60563079..60565570-chr4:60567282..60570402,3	K562	blood:

Extended variants
information (count: 980 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373380851	chr4:60534418-60534419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182023823	chr4:60534434-60534435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552049219	chr4:60534435-60534436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557023333	chr4:60534480-60534481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569253424	chr4:60534522-60534523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539513384	chr4:60534547-60534548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376381076	chr4:60534549-60534550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1355803	chr4:60534555-60534556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs374071503	chr4:60534574-60534575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114546607	chr4:60534605-60534606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549685906	chr4:60534616-60534617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147463799	chr4:60534620-60534621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375278098	chr4:60534665-60534666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567696958	chr4:60534710-60534711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185036846	chr4:60534717-60534718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189838634	chr4:60534753-60534754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542111172	chr4:60534779-60534780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563112640	chr4:60534805-60534806	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530546742	chr4:60534811-60534812	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545567398	chr4:60534959-60534960	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564200494	chr4:60535098-60535099	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139837423	chr4:60535191-60535192	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113714954	chr4:60535200-60535201	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181102311	chr4:60535207-60535208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568670896	chr4:60535213-60535214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529529926	chr4:60535328-60535329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531745172	chr4:60535346-60535347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114249725	chr4:60535363-60535364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569142357	chr4:60535365-60535366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57830644	chr4:60535366-60535367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551457039	chr4:60535394-60535395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191443789	chr4:60535395-60535396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183708621	chr4:60535396-60535397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552704036	chr4:60535409-60535410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188585454	chr4:60535486-60535487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113164623	chr4:60535492-60535493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191028696	chr4:60535522-60535523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60942753	chr4:60535530-60535531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145302906	chr4:60535538-60535539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183545171	chr4:60535541-60535542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186734740	chr4:60535556-60535557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73820658	chr4:60535654-60535655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191540023	chr4:60535668-60535669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540349051	chr4:60535687-60535688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184061555	chr4:60535702-60535703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577386001	chr4:60535715-60535716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529526065	chr4:60535733-60535734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188334954	chr4:60535755-60535756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371281924	chr4:60535757-60535758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192825898	chr4:60535792-60535793	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60534400-60534800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr4:60534400-60535800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:60534600-60534800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:60534600-60535200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:60534600-60535400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:60534800-60535200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr4:60534800-60535200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:60536800-60537200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:60543400-60550000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:60549400-60550400	Enhancers	Liver	Liver
11	chr4:60550400-60550800	Weak transcription	Liver	Liver
12	chr4:60550800-60552000	Enhancers	Liver	Liver
13	chr4:60552000-60554600	Weak transcription	Liver	Liver
14	chr4:60554600-60555600	Enhancers	Liver	Liver
15	chr4:60555600-60560600	Weak transcription	Liver	Liver
16	chr4:60560600-60562400	Enhancers	Liver	Liver
17	chr4:60569800-60570000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:60570000-60570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:60570000-60570400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:60570000-60571000	Active TSS	Primary hematopoietic stem cells	blood
21	chr4:60570200-60570600	Active TSS	Adipose Nuclei	Adipose
22	chr4:60570200-60570800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:60570200-60570800	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr4:60570400-60570800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:60570800-60571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:60570800-60571000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:60571400-60571600	Enhancers	Gastric	stomach
28	chr4:60574800-60576000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr4:60594000-60594600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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