Variant report

Variant	nsv460741
Chromosome Location	chr3:83626697-83867681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GBE1-6	chr3:83825693-83825894	XLOC_003172
2	lnc-GBE1-6	chr3:83828052-83828115	XLOC_003172

Variant related genes	Relation type
MSN	miRNA target sites

Extended variants
information (count: 983 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112953784	chr3:83630206-83630207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543078786	chr3:83630207-83630208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575066686	chr3:83630211-83630212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77034754	chr3:83630249-83630250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114944961	chr3:83630258-83630259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545728476	chr3:83630291-83630292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182807206	chr3:83630311-83630312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73117764	chr3:83630324-83630325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs199798153	chr3:83630356-83630357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577514874	chr3:83630400-83630401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546181180	chr3:83630418-83630419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546799503	chr3:83630433-83630434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567833479	chr3:83630455-83630456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73842635	chr3:83630473-83630474	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550261055	chr3:83630498-83630499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570069892	chr3:83630516-83630517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567339803	chr3:83654603-83654604	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535991217	chr3:83654606-83654607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs75981795	chr3:83654616-83654617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569345344	chr3:83654619-83654620	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs538261376	chr3:83654631-83654632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112616041	chr3:83654638-83654639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182450466	chr3:83654643-83654644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540527111	chr3:83654683-83654684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs114819955	chr3:83654741-83654742	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187086197	chr3:83654778-83654779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543839714	chr3:83654784-83654785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs12635398	chr3:83654806-83654807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs192773153	chr3:83654827-83654828	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs147162587	chr3:83654828-83654829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548410201	chr3:83654855-83654856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576579962	chr3:83654873-83654874	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs138753728	chr3:83654881-83654882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565096296	chr3:83654912-83654913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs564230332	chr3:83654942-83654943	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs527624972	chr3:83654952-83654953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547372004	chr3:83654970-83654971	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs184951001	chr3:83654975-83654976	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs188267744	chr3:83655078-83655079	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs142696266	chr3:83655118-83655119	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs569432503	chr3:83655130-83655131	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150729613	chr3:83655151-83655152	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs193159574	chr3:83655155-83655156	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547390639	chr3:83655186-83655187	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs371694818	chr3:83655197-83655198	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139179942	chr3:83655215-83655216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373660272	chr3:83655219-83655220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116525598	chr3:83655228-83655229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376393535	chr3:83655253-83655254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112814419	chr3:83655255-83655256	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83630200-83630600	Enhancers	Fetal Intestine Large	intestine
2	chr3:83630200-83630600	Enhancers	Fetal Intestine Small	intestine
3	chr3:83654600-83655200	Active TSS	Fetal Brain Female	brain
4	chr3:83655000-83655400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:83658200-83659200	Enhancers	Fetal Lung	lung
6	chr3:83660600-83664600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:83660800-83661200	Enhancers	Pancreas	Pancrea
8	chr3:83664600-83665200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:83665200-83671200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:83666200-83667200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:83666400-83666800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:83666600-83667000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:83666800-83667000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:83669000-83669200	ZNF genes & repeats	Pancreas	Pancrea
15	chr3:83671200-83671400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:83671400-83672200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:83672200-83672600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:83682200-83682800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:83682800-83683200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:83683200-83683400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:83683400-83683800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:83683800-83685200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:83701200-83701800	Enhancers	Dnd41	blood
24	chr3:83703800-83705000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:83774600-83774800	ZNF genes & repeats	Dnd41	blood
26	chr3:83776600-83777200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr3:83789600-83790400	Enhancers	Fetal Heart	heart
28	chr3:83804000-83805000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:83819200-83819600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:83829600-83830200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:83840000-83842400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:83862000-83862200	Enhancers	Spleen	Spleen

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