Variant report

Variant	nsv594105
Chromosome Location	chr4:45175691-45265046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:45252670..45254884-chr4:45328332..45330157,2	K562	blood:
2	chr4:45232221..45234361-chr4:45236551..45238886,2	K562	blood:
3	chr4:45232221..45234361-chr4:45236551..45238886,2	K562	blood:
4	chr1:151808172..151808926-chr4:45206985..45207611,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUF1-2	chr4:45197444-45197494	XLOC_003531
2	lnc-GUF1-2	chr4:45194851-45194878	XLOC_003531
3	lnc-GUF1-2	chr4:45195914-45196064	XLOC_003531

No data

Variant related genes	Relation type
DZIP1	miRNA target sites

Extended variants
information (count: 2383 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2383 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146464259	chr4:45177207-45177208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79960175	chr4:45177230-45177231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543601818	chr4:45177250-45177251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531287315	chr4:45177287-45177288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549820139	chr4:45177308-45177309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567162652	chr4:45177371-45177372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562159455	chr4:45177390-45177391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529449154	chr4:45177391-45177392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547689685	chr4:45177398-45177399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566028966	chr4:45177408-45177409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539487391	chr4:45177518-45177519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563935714	chr4:45177528-45177529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551346311	chr4:45177543-45177544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35478252	chr4:45177547-45177548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572968095	chr4:45177583-45177584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570160418	chr4:45177590-45177591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57365671	chr4:45177648-45177649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371837248	chr4:45177710-45177711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111638072	chr4:45177758-45177759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112761995	chr4:45177872-45177873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574553610	chr4:45177883-45177884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576245543	chr4:45177895-45177896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541674660	chr4:45177927-45177928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535588281	chr4:45177956-45177957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74511639	chr4:45178005-45178006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74715904	chr4:45178081-45178082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546757215	chr4:45178101-45178102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140682155	chr4:45178132-45178133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564092835	chr4:45178168-45178169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187867639	chr4:45178236-45178237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192091823	chr4:45178275-45178276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184486009	chr4:45178276-45178277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540085716	chr4:45178283-45178284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367864225	chr4:45178284-45178285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150093257	chr4:45178307-45178308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188982796	chr4:45178413-45178414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368982380	chr4:45178415-45178416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559654582	chr4:45178425-45178426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138625447	chr4:45178442-45178443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551627064	chr4:45178502-45178503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73813012	chr4:45178533-45178534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537411400	chr4:45178544-45178545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149325904	chr4:45178552-45178553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567741665	chr4:45178604-45178605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540577873	chr4:45178672-45178673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535682326	chr4:45178676-45178677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192542131	chr4:45178707-45178708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146970613	chr4:45178728-45178729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184963931	chr4:45178741-45178742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189028557	chr4:45178750-45178751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45177200-45178400	Enhancers	Fetal Heart	heart
2	chr4:45178400-45180000	Weak transcription	Fetal Heart	heart
3	chr4:45180000-45180200	Enhancers	Fetal Heart	heart
4	chr4:45180200-45184600	Weak transcription	Fetal Heart	heart
5	chr4:45181400-45181800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:45184600-45185400	Enhancers	Fetal Heart	heart
7	chr4:45185400-45185600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:45185400-45185800	Enhancers	Adipose Nuclei	Adipose
9	chr4:45185400-45186200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:45185400-45192200	Weak transcription	Fetal Heart	heart
11	chr4:45185600-45186400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:45185600-45186800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:45186800-45187200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:45192200-45194000	Enhancers	Fetal Heart	heart
15	chr4:45192800-45193200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:45194000-45194800	Weak transcription	Fetal Heart	heart
17	chr4:45194800-45195000	Enhancers	Fetal Heart	heart
18	chr4:45197200-45200600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:45200600-45202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:45200600-45202200	Enhancers	HMEC	breast
21	chr4:45202000-45214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:45227000-45227200	ZNF genes & repeats	Aorta	Aorta
23	chr4:45227200-45227800	Weak transcription	Aorta	Aorta
24	chr4:45227800-45228000	Enhancers	Aorta	Aorta
25	chr4:45234400-45234800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:45234400-45234800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:45234400-45235000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:45235000-45236800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:45236800-45237600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:45237600-45243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:45243800-45244200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:45243800-45244200	Enhancers	Adipose Nuclei	Adipose
33	chr4:45257200-45269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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