Variant report

Variant	nsv878984
Chromosome Location	chr4:45191856-45321022
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:45285924..45288125-chr4:45291343..45293515,2	K562	blood:
2	chr4:45252670..45254884-chr4:45328332..45330157,2	K562	blood:
3	chr4:45285924..45288125-chr4:45291343..45293515,2	K562	blood:
4	chr1:151808172..151808926-chr4:45206985..45207611,2	MCF-7	breast:
5	chr4:45232221..45234361-chr4:45236551..45238886,2	K562	blood:
6	chr4:45232221..45234361-chr4:45236551..45238886,2	K562	blood:

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

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

No data

Variant related genes	Relation type
DZIP1	miRNA target sites

Extended variants
information (count: 2431 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2431 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1858410	chr4:45191856-45191857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534898826	chr4:45191863-45191864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190086881	chr4:45191927-45191928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578171404	chr4:45191948-45191949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545689161	chr4:45191952-45191953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34988906	chr4:45191968-45191969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58139114	chr4:45191969-45191970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34486877	chr4:45191976-45191977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34659687	chr4:45191979-45191980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397733328	chr4:45191989-45191990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557401627	chr4:45191998-45191999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16858131	chr4:45192029-45192030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543189861	chr4:45192043-45192044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544292664	chr4:45192122-45192123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561358266	chr4:45192137-45192138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114216909	chr4:45192189-45192190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114874916	chr4:45192196-45192197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111971855	chr4:45192275-45192276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187768596	chr4:45192280-45192281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28709325	chr4:45192346-45192347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563558839	chr4:45192353-45192354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371664785	chr4:45192368-45192369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs348508	chr4:45192369-45192370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192390122	chr4:45192457-45192458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567235861	chr4:45192474-45192475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535250405	chr4:45192482-45192483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73237661	chr4:45192515-45192516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs348509	chr4:45192567-45192568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539344396	chr4:45192594-45192595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139207872	chr4:45192620-45192621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559313701	chr4:45192651-45192652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575748744	chr4:45192774-45192775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs348510	chr4:45192785-45192786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555072590	chr4:45192821-45192822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548801805	chr4:45192829-45192830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184003777	chr4:45192847-45192848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114744940	chr4:45192848-45192849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12509470	chr4:45192865-45192866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552460305	chr4:45192974-45192975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377245642	chr4:45193025-45193026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77346699	chr4:45193046-45193047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35792593	chr4:45193075-45193076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386399968	chr4:45193076-45193077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532919088	chr4:45193081-45193082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561496271	chr4:45193115-45193116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60978620	chr4:45193125-45193126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544951346	chr4:45193126-45193127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34496066	chr4:45193132-45193133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7681179	chr4:45193147-45193148	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs348511	chr4:45193166-45193167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45185400-45192200	Weak transcription	Fetal Heart	heart
2	chr4:45192200-45194000	Enhancers	Fetal Heart	heart
3	chr4:45192800-45193200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:45194000-45194800	Weak transcription	Fetal Heart	heart
5	chr4:45194800-45195000	Enhancers	Fetal Heart	heart
6	chr4:45197200-45200600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:45200600-45202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:45200600-45202200	Enhancers	HMEC	breast
9	chr4:45202000-45214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:45227000-45227200	ZNF genes & repeats	Aorta	Aorta
11	chr4:45227200-45227800	Weak transcription	Aorta	Aorta
12	chr4:45227800-45228000	Enhancers	Aorta	Aorta
13	chr4:45234400-45234800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:45234400-45234800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:45234400-45235000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:45235000-45236800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:45236800-45237600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:45237600-45243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:45243800-45244200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:45243800-45244200	Enhancers	Adipose Nuclei	Adipose
21	chr4:45257200-45269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:45272800-45275000	Weak transcription	Psoas Muscle	Psoas
23	chr4:45279200-45279600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:45281000-45281400	Enhancers	Stomach Mucosa	stomach
25	chr4:45281400-45281800	Weak transcription	Stomach Mucosa	stomach
26	chr4:45281800-45282400	Enhancers	Stomach Mucosa	stomach
27	chr4:45294800-45295000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:45294800-45295800	Enhancers	Gastric	stomach
29	chr4:45295000-45297600	Enhancers	Stomach Mucosa	stomach
30	chr4:45295200-45295400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:45296200-45296800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr4:45313000-45313400	Enhancers	Fetal Muscle Leg	muscle
33	chr4:45316200-45318400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:45318000-45319800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:45318400-45319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:45318600-45320400	Enhancers	Fetal Heart	heart
37	chr4:45319200-45319800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:45319400-45319800	Enhancers	Fetal Lung	lung
39	chr4:45319800-45322200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:45320400-45325600	Weak transcription	Fetal Heart	heart

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