Variant report

Variant	nsv1009362
Chromosome Location	chr4:125274684-125325694
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	chr4:125299143..125301213-chr4:125631777..125634720,2	MCF-7	breast:
2	chr4:125278115..125279744-chr7:124830556..124832056,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD50-2	chr4:125298864-125299036	XLOC_004063

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 563 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182494959	chr4:125281229-125281230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148574925	chr4:125281252-125281253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531940515	chr4:125281262-125281263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17008080	chr4:125281321-125281322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs144522332	chr4:125281382-125281383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563797403	chr4:125281406-125281407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370697385	chr4:125281414-125281415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs512626	chr4:125281441-125281442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549564798	chr4:125281492-125281493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567859240	chr4:125281512-125281513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62322024	chr4:125281556-125281557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6829829	chr4:125281567-125281568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62322025	chr4:125281570-125281571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565362203	chr4:125281572-125281573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs586772	chr4:125281591-125281592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557396372	chr4:125281594-125281595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13119212	chr4:125281631-125281632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114850011	chr4:125281666-125281667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555585181	chr4:125281671-125281672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573845633	chr4:125281742-125281743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375565671	chr4:125281754-125281755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541351626	chr4:125281774-125281775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553381309	chr4:125281814-125281815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578052687	chr4:125281844-125281845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10709098	chr4:125281887-125281888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397692212	chr4:125281897-125281898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545437590	chr4:125281905-125281906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62319360	chr4:125281927-125281928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112484970	chr4:125281930-125281931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77114811	chr4:125281963-125281964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189203201	chr4:125282001-125282002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146598256	chr4:125282037-125282038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368596582	chr4:125282050-125282051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192371545	chr4:125282093-125282094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546858096	chr4:125282107-125282108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571622583	chr4:125282113-125282114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532726456	chr4:125282124-125282125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72676682	chr4:125282138-125282139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370309310	chr4:125282139-125282140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569646896	chr4:125282188-125282189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537191424	chr4:125282200-125282201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548890251	chr4:125282209-125282210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184413248	chr4:125282215-125282216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534834199	chr4:125282223-125282224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553273305	chr4:125282289-125282290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372718345	chr4:125282290-125282291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578007413	chr4:125282310-125282311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538988702	chr4:125282313-125282314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557364099	chr4:125282366-125282367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575631396	chr4:125282390-125282391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125281200-125284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:125282400-125282600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:125294600-125294800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:125294800-125295600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:125295600-125296000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:125296000-125296200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:125304000-125305000	Enhancers	Fetal Lung	lung
8	chr4:125307000-125308200	Enhancers	Colon Smooth Muscle	Colon
9	chr4:125307200-125307600	Enhancers	Rectal Smooth Muscle	rectum
10	chr4:125307400-125308200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:125310400-125312200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:125310400-125312400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:125310400-125312400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:125310800-125311800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:125311000-125311800	Enhancers	NHEK	skin
16	chr4:125311600-125312200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:125311600-125312400	Enhancers	Fetal Lung	lung
18	chr4:125320400-125321000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:125320400-125321200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:125320400-125321400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:125320800-125321200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:125322600-125323600	Enhancers	HUVEC	blood vessel

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