Variant report

Variant	esv2641726
Chromosome Location	chr1:58342621-58344021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8A-4	chr1:58343969-58344115	ENSG00000226759.3
2	lnc-C8A-4	chr1:58343969-58344044	ENSG00000226759.3
3	lnc-C8A-4	chr1:58343969-58344137	ENSG00000226759.3
4	lnc-C8A-4	chr1:58343969-58344445	ENSG00000226759.3
5	lnc-C8A-5	chr1:58343974-58344115	ENSG00000230363
6	lnc-C8A-4	chr1:58343969-58344115	ENSG00000226759.3
7	lnc-C8A-4	chr1:58343969-58344115	ENSG00000226759.3
8	lnc-C8A-4	chr1:58343969-58344115	ENSG00000226759.3
9	lnc-C8A-4	chr1:58343969-58344016	ENSG00000226759.3
10	lnc-C8A-4	chr1:58343969-58344139	ENSG00000226759.3

No data

Extended variants
information (count: 22 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535428021	chr1:58342640-58342641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577615485	chr1:58342758-58342759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193110351	chr1:58342772-58342773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77539463	chr1:58342826-58342827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138639607	chr1:58342848-58342849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114029969	chr1:58342862-58342863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553922300	chr1:58342873-58342874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11806667	chr1:58342956-58342957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546117961	chr1:58343001-58343002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115099554	chr1:58343039-58343040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576702321	chr1:58343080-58343081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542164317	chr1:58343102-58343103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562065203	chr1:58343111-58343112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527757527	chr1:58343150-58343151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541553044	chr1:58343162-58343163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57198454	chr1:58343185-58343186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184440091	chr1:58343972-58343973	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs541465176	chr1:58343974-58343975	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs2207986	chr1:58343983-58343984	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533306057	chr1:58343984-58343985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs189371573	chr1:58343990-58343991	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs563342575	chr1:58343995-58343996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58340600-58342800	Weak transcription	HMEC	breast
2	chr1:58342800-58343200	Enhancers	HMEC	breast

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