Variant report

Variant	nsv965182
Chromosome Location	chr3:82367838-82375765
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	CTCF	chr3:82369193-82369245	Kidney_OC	kidney:	n/a	n/a
2	MAFF	chr3:82371404-82371524	HepG2	liver:	n/a	n/a
3	MAFK	chr3:82371430-82371635	HepG2	liver:	n/a	n/a
4	STAT3	chr3:82374752-82374873	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF143	chr3:82371437-82371474	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GBE1-8	chr3:82368323-82368935	NONHSAT090629
2	lnc-GBE1-8	chr3:82369268-82369430	NONHSAT090629

Variant related genes	Relation type
RPL7AP23	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546357007	chr3:82368331-82368332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs138708052	chr3:82368392-82368393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs148962742	chr3:82368396-82368397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs143708241	chr3:82368401-82368402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs148151182	chr3:82368405-82368406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs117208731	chr3:82368406-82368407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs568563680	chr3:82368412-82368413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551027432	chr3:82368415-82368416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs191117048	chr3:82368420-82368421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs2167111	chr3:82368431-82368432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs554687427	chr3:82368449-82368450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs115117791	chr3:82368501-82368502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs543233763	chr3:82368502-82368503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs566509947	chr3:82368510-82368511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs535643528	chr3:82368525-82368526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs555241323	chr3:82368567-82368568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs575191388	chr3:82368577-82368578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs377374192	chr3:82368578-82368579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs183619677	chr3:82368621-82368622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs557360746	chr3:82368625-82368626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs577240090	chr3:82368641-82368642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs538952328	chr3:82368643-82368644	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs79172188	chr3:82368647-82368648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs553361371	chr3:82368707-82368708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs189292219	chr3:82368805-82368806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs142968468	chr3:82368820-82368821	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs368332783	chr3:82368822-82368823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs573594255	chr3:82368846-82368847	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs542449218	chr3:82368847-82368848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs562351761	chr3:82368849-82368850	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs531257901	chr3:82368905-82368906	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs544939742	chr3:82368934-82368935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs542034426	chr3:82369307-82369308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs555041702	chr3:82369313-82369314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs56228704	chr3:82369323-82369324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs544371762	chr3:82369324-82369325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs575922623	chr3:82369341-82369342	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs544881530	chr3:82369373-82369374	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs190133943	chr3:82369396-82369397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs78053671	chr3:82369419-82369420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs115950728	chr3:82371404-82371405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372266464	chr3:82371452-82371453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs566039773	chr3:82371477-82371478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs569664914	chr3:82371520-82371521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201362271	chr3:82371521-82371522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538707803	chr3:82371524-82371525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs568022882	chr3:82371542-82371543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs190308306	chr3:82371549-82371550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199980400	chr3:82371556-82371557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182908757	chr3:82371583-82371584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82374800-82375600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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