Variant report

Variant	nsv965181
Chromosome Location	chr3:80005217-80007379
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	POLR2A	chr3:80007323-80007400	A549	lung:	n/a	n/a
2	POLR2A	chr3:80007360-80007397	MCF-7	breast:	n/a	n/a
3	POLR2A	chr3:80007315-80007404	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:80007299-80007423	A549	lung:	n/a	n/a
5	POLR2A	chr3:80007318-80007404	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:80002694..80006271-chr3:80007743..80010897,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROBO1-3	chr3:80006716-80007292	NONHSAT090587

Variant related genes	Relation type
HMGB1P38	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73124127	chr3:80006725-80006726	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192084203	chr3:80006728-80006729	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs184095523	chr3:80006752-80006753	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs368133586	chr3:80006807-80006808	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs550409636	chr3:80006813-80006814	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs111700611	chr3:80006815-80006816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs563826522	chr3:80006827-80006828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs532750250	chr3:80006828-80006829	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs552432851	chr3:80006838-80006839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566150223	chr3:80006868-80006869	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs534736354	chr3:80006877-80006878	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs79773744	chr3:80006910-80006911	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs567238626	chr3:80006928-80006929	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs188496276	chr3:80006948-80006949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs571709782	chr3:80006978-80006979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs77012802	chr3:80006997-80006998	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs386662837	chr3:80007014-80007015	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs74988678	chr3:80007015-80007016	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs143080391	chr3:80007039-80007040	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs531725024	chr3:80007076-80007077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs147060574	chr3:80007081-80007082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs572081385	chr3:80007131-80007132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs191353158	chr3:80007164-80007165	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs554567363	chr3:80007166-80007167	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs575217103	chr3:80007206-80007207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs113010866	chr3:80007210-80007211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563963979	chr3:80007221-80007222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs77778093	chr3:80007267-80007268	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs183532748	chr3:80007289-80007290	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs537184679	chr3:80007317-80007318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559612086	chr3:80007327-80007328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs148237617	chr3:80007344-80007345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs548186383	chr3:80007354-80007355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs141270530	chr3:80007358-80007359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs530807537	chr3:80007374-80007375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	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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