Variant report

Variant	nsv879950
Chromosome Location	chr4:131508100-131560875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:131523291..131525354-chr4:131632545..131634300,2	K562	blood:

Extended variants
information (count: 1076 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4493555	chr4:131508100-131508101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs17051051	chr4:131508114-131508115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77453846	chr4:131508147-131508148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576568206	chr4:131508164-131508165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372549494	chr4:131508165-131508166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188591067	chr4:131508173-131508174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35503342	chr4:131508229-131508230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181860886	chr4:131508230-131508231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370486463	chr4:131508232-131508233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112968352	chr4:131508262-131508263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143111811	chr4:131508266-131508267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34663208	chr4:131508288-131508289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13125488	chr4:131508305-131508306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559833682	chr4:131508310-131508311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533356633	chr4:131508314-131508315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550780151	chr4:131508316-131508317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551396547	chr4:131508387-131508388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534512474	chr4:131508402-131508403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187028001	chr4:131508451-131508452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530639784	chr4:131508544-131508545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549127164	chr4:131508576-131508577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570506943	chr4:131508610-131508611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4241946	chr4:131508638-131508639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191466982	chr4:131508646-131508647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116282475	chr4:131508665-131508666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368756019	chr4:131508666-131508667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565321327	chr4:131508720-131508721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113288772	chr4:131508726-131508727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538204131	chr4:131508739-131508740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184056825	chr4:131508757-131508758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368646684	chr4:131508781-131508782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111909095	chr4:131508782-131508783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112646974	chr4:131508792-131508793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555958120	chr4:131508812-131508813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186093224	chr4:131508833-131508834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541579944	chr4:131508845-131508846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576622259	chr4:131508936-131508937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373934603	chr4:131508962-131508963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146758268	chr4:131509012-131509013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537922464	chr4:131509029-131509030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545677345	chr4:131509165-131509166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144067021	chr4:131509196-131509197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558929402	chr4:131509202-131509203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1459284	chr4:131509212-131509213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563450085	chr4:131509282-131509283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540760413	chr4:131509289-131509290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189865766	chr4:131509290-131509291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578171440	chr4:131509387-131509388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530868457	chr4:131509391-131509392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548983909	chr4:131509413-131509414	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131503600-131509400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:131507800-131508400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:131509400-131509800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:131509800-131511400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:131511400-131511800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:131514400-131514600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:131514600-131516400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:131514600-131521800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:131520800-131521200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:131520800-131521400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:131520800-131522000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:131521800-131522200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:131521800-131523400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:131523400-131527200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:131527000-131527800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:131527200-131527800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:131527800-131531600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:131531600-131532600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:131554000-131554600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:131554000-131554600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:131554000-131554600	ZNF genes & repeats	Lung	lung
22	chr4:131554200-131554400	Enhancers	Pancreas	Pancrea
23	chr4:131554200-131554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:131554400-131561200	Weak transcription	Pancreas	Pancrea
25	chr4:131554600-131562800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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