Variant report

Variant	nsv965220
Chromosome Location	chr3:145536700-145546951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr3:145537640-145537652	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFK	chr3:145544597-145544848	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:145545628-145545697	MCF10A-Er-Src	breast:	n/a	n/a
4	SETDB1	chr3:145544753-145545053	U2OS	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLOD2-6	chr3:145542044-145542526	NONHSAT092540

Variant related genes	Relation type
RPL21P39	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143878350	chr3:145542054-145542055	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs542089622	chr3:145542084-145542085	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs148184948	chr3:145542085-145542086	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs550162366	chr3:145542122-145542123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs528019532	chr3:145542159-145542160	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs184830088	chr3:145542160-145542161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs571115195	chr3:145542164-145542165	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs71620554	chr3:145542203-145542204	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9877227	chr3:145542204-145542205	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568604223	chr3:145542222-145542223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs373805560	chr3:145542223-145542224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs7638582	chr3:145542238-145542239	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565871534	chr3:145542241-145542242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs142551114	chr3:145542252-145542253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs558049419	chr3:145542269-145542270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs575906568	chr3:145542272-145542273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs7616753	chr3:145542281-145542282	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs71313866	chr3:145542284-145542285	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs7628349	chr3:145542297-145542298	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541115444	chr3:145542362-145542363	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs145716108	chr3:145542367-145542368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs527895436	chr3:145542377-145542378	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs371743040	chr3:145542380-145542381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs546044075	chr3:145542392-145542393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs570583393	chr3:145542433-145542434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs7616879	chr3:145542441-145542442	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374967954	chr3:145542444-145542445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs7618988	chr3:145542492-145542493	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145475131	chr3:145542493-145542494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs554788285	chr3:145544618-145544619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs144046674	chr3:145544655-145544656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs540091491	chr3:145544682-145544683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs376927871	chr3:145544702-145544703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs77803475	chr3:145544757-145544758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs76549450	chr3:145544761-145544762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544518083	chr3:145544812-145544813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs562728612	chr3:145544838-145544839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs183269166	chr3:145544869-145544870	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548139698	chr3:145544882-145544883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs114062656	chr3:145544890-145544891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs527362922	chr3:145544987-145544988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs546918497	chr3:145544996-145544997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs6779956	chr3:145545041-145545042	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538807948	chr3:145545053-145545054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs74424209	chr3:145545632-145545633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs116341848	chr3:145545651-145545652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs35466507	chr3:145545667-145545668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs113816566	chr3:145545697-145545698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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