Variant report

Variant	nsv594754
Chromosome Location	chr4:86103219-86117898
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	chr4:86100478..86103305-chr4:86104929..86106522,2	K562	blood:
2	chr4:86100478..86103305-chr4:86104929..86106522,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP24-3	chr4:86109902-86110053	ucscGeneNc_uc003hpg_2
2	lnc-ARHGAP24-3	chr4:86106995-86107304	ucscGeneNc_uc003hpg_2

Extended variants
information (count: 68 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369860712	chr4:86107036-86107037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs558603752	chr4:86107049-86107050	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs149021408	chr4:86107177-86107178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs4361379	chr4:86107220-86107221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs568217679	chr4:86107249-86107250	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs17009586	chr4:86107271-86107272	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs143092349	chr4:86107275-86107276	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs77210073	chr4:86107276-86107277	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs200947068	chr4:86109906-86109907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs567895282	chr4:86109911-86109912	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538504762	chr4:86109924-86109925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs148751399	chr4:86109958-86109959	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs202245963	chr4:86109985-86109986	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs114751995	chr4:86110011-86110012	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs575285120	chr4:86117061-86117062	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs185140319	chr4:86117062-86117063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189854900	chr4:86117079-86117080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7663029	chr4:86117082-86117083	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114177443	chr4:86117090-86117091	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11734764	chr4:86117097-86117098	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113213566	chr4:86117155-86117156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs13133618	chr4:86117173-86117174	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs180765583	chr4:86117174-86117175	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs149373067	chr4:86117179-86117180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs55916595	chr4:86117258-86117259	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186422276	chr4:86117260-86117261	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs112683592	chr4:86117281-86117282	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534682290	chr4:86117282-86117283	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553301758	chr4:86117305-86117306	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113828331	chr4:86117328-86117329	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535652727	chr4:86117332-86117333	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114298155	chr4:86117339-86117340	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115169983	chr4:86117354-86117355	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545903043	chr4:86117368-86117369	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs138469732	chr4:86117373-86117374	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs35503537	chr4:86117396-86117397	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570455569	chr4:86117404-86117405	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559590612	chr4:86117416-86117417	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529962607	chr4:86117417-86117418	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542030055	chr4:86117442-86117443	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs111560956	chr4:86117448-86117449	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563603823	chr4:86117454-86117455	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530798310	chr4:86117469-86117470	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs551903374	chr4:86117478-86117479	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564071352	chr4:86117485-86117486	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs528180079	chr4:86117544-86117545	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546724828	chr4:86117545-86117546	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567809317	chr4:86117578-86117579	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535684681	chr4:86117583-86117584	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564188194	chr4:86117594-86117595	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86117000-86118000	Active TSS	A549	lung
2	chr4:86117200-86117600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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