Variant report

Variant	nsv238095
Chromosome Location	chr3:47248230-47253427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47246768..47248949-chr3:47249706..47251385,2	K562	blood:
2	chr3:47251688..47253992-chr3:47255323..47258020,3	K562	blood:
3	chr3:47246768..47248949-chr3:47249706..47251385,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBEAL2-2	chr3:47248261-47248357	refGeneNc_4033_NR_033373
2	lnc-NBEAL2-2	chr3:47252551-47252653	refGeneNc_4033_NR_033373

Extended variants
information (count: 131 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376258070	chr3:47248230-47248231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574521664	chr3:47248247-47248248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541440254	chr3:47248348-47248349	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs563447280	chr3:47248412-47248413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141666385	chr3:47248440-47248441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376193877	chr3:47248446-47248447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369624218	chr3:47248453-47248454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564358777	chr3:47248609-47248610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528624488	chr3:47248634-47248635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150513103	chr3:47248768-47248769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182265011	chr3:47248781-47248782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372791969	chr3:47248940-47248941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553872370	chr3:47249035-47249036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57383920	chr3:47249075-47249076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550689598	chr3:47249084-47249085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186635825	chr3:47249089-47249090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539552636	chr3:47249124-47249125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558256118	chr3:47249125-47249126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552059197	chr3:47249231-47249232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534795419	chr3:47249266-47249267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553332766	chr3:47249292-47249293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191445245	chr3:47249301-47249302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541851804	chr3:47249313-47249314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546421519	chr3:47249439-47249440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140253109	chr3:47249440-47249441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4607134	chr3:47249459-47249460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377202848	chr3:47249484-47249485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575132680	chr3:47249513-47249514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11130122	chr3:47249571-47249572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183287179	chr3:47249642-47249643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537829904	chr3:47249735-47249736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576826258	chr3:47249753-47249754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563819668	chr3:47249785-47249786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35107635	chr3:47249818-47249819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562222773	chr3:47249819-47249820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546786123	chr3:47249833-47249834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573396977	chr3:47249854-47249855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376509903	chr3:47249855-47249856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558167683	chr3:47249858-47249859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370386673	chr3:47249902-47249903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188847197	chr3:47249908-47249909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75266740	chr3:47249917-47249918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60120693	chr3:47249918-47249919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112389652	chr3:47249940-47249941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569179414	chr3:47250000-47250001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185292226	chr3:47250003-47250004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201784942	chr3:47250025-47250026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551939698	chr3:47250102-47250103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529324506	chr3:47250121-47250122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139756315	chr3:47250181-47250182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
2	chr3:47208000-47249600	Weak transcription	Ovary	ovary
3	chr3:47208200-47256400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:47208200-47276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:47221000-47250200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:47222800-47249000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:47222800-47249400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:47223400-47256600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:47223800-47252600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:47223800-47269200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:47224200-47250200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:47236200-47256800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:47236800-47248400	Weak transcription	Brain Angular Gyrus	brain
14	chr3:47238400-47256400	Weak transcription	Right Atrium	heart
15	chr3:47245400-47266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:47247000-47269400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:47247400-47249600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:47252800-47253800	Enhancers	HepG2	liver
19	chr3:47253200-47254000	Enhancers	K562	blood

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