Variant report

Variant	nsv979926
Chromosome Location	chr3:75986495-75987322
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	chr20:26208071..26209607-chr3:75987301..75988916,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRG2C-12	chr3:75986632-75986776	NONHSAT090553

Extended variants
information (count: 41 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372373529	chr3:75986540-75986541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62269816	chr3:75986542-75986543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539728114	chr3:75986568-75986569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557801903	chr3:75986569-75986570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572846518	chr3:75986574-75986575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs3925424	chr3:75986621-75986622	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9631539	chr3:75986622-75986623	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12171318	chr3:75986663-75986664	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs540331749	chr3:75986685-75986686	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs62269817	chr3:75986686-75986687	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs79015247	chr3:75986695-75986696	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs78834776	chr3:75986717-75986718	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs62269818	chr3:75986719-75986720	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs561586185	chr3:75986775-75986776	ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs80235520	chr3:75986794-75986795	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77101234	chr3:75986813-75986814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73123284	chr3:75986833-75986834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs573667988	chr3:75986834-75986835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs181396988	chr3:75986850-75986851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75670471	chr3:75986858-75986859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79216754	chr3:75986863-75986864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7610755	chr3:75986874-75986875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76883623	chr3:75986880-75986881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs564162041	chr3:75986891-75986892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs74938295	chr3:75986920-75986921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs145511440	chr3:75986924-75986925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs75380808	chr3:75986950-75986951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs72886589	chr3:75986961-75986962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73841023	chr3:75986975-75986976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs371927268	chr3:75986986-75986987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369400512	chr3:75986988-75986989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375191565	chr3:75986990-75986991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79490584	chr3:75987212-75987213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147797499	chr3:75987228-75987229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113361503	chr3:75987240-75987241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113554214	chr3:75987251-75987252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115111215	chr3:75987257-75987258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575277596	chr3:75987277-75987278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543874452	chr3:75987278-75987279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73123288	chr3:75987284-75987285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570732017	chr3:75987319-75987320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75983200-75986800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr3:75984800-75987000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr3:75986400-75986800	ZNF genes & repeats	NHLF	lung
4	chr3:75986600-75986800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:75986600-75986800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:75986600-75986800	Enhancers	Esophagus	oesophagus
7	chr3:75986600-75986800	ZNF genes & repeats	Fetal Brain Male	brain
8	chr3:75986600-75986800	Enhancers	Gastric	stomach
9	chr3:75986600-75986800	ZNF genes & repeats	Pancreas	Pancrea
10	chr3:75986600-75986800	ZNF genes & repeats	Spleen	Spleen
11	chr3:75987200-75988200	Weak transcription	Fetal Brain Male	brain

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