Variant report

Variant	esv3365269
Chromosome Location	chr17:19542710-19544708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC47A2-2	chr17:19543740-19543863	XLOC_012417
2	lnc-SLC47A2-2	chr17:19542441-19543431	XLOC_012417

Variant related genes	Relation type
BCL2L11	miRNA target sites

Extended variants
information (count: 62 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182577046	chr17:19542745-19542746	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs528791123	chr17:19542750-19542751	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542008293	chr17:19542804-19542805	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs374163675	chr17:19542807-19542808	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs561994012	chr17:19542813-19542814	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs530864205	chr17:19542872-19542873	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs551065087	chr17:19542880-19542881	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs139464310	chr17:19543037-19543038	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs113265104	chr17:19543111-19543112	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533384903	chr17:19543121-19543122	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs372558667	chr17:19543152-19543153	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs11871420	chr17:19543162-19543163	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs566758678	chr17:19543189-19543190	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs187141802	chr17:19543190-19543191	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs372370293	chr17:19543192-19543193	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs569041932	chr17:19543194-19543195	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs537508301	chr17:19543195-19543196	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs557856159	chr17:19543202-19543203	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs78342773	chr17:19543228-19543229	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs28495827	chr17:19543254-19543255	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs546438353	chr17:19543269-19543270	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs140608936	chr17:19543286-19543287	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs111710980	chr17:19543290-19543291	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs573196267	chr17:19543332-19543333	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs12940877	chr17:19543397-19543398	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs201766101	chr17:19543434-19543435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575812777	chr17:19543435-19543436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544351013	chr17:19543436-19543437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564582973	chr17:19543437-19543438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371218340	chr17:19543505-19543506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539280529	chr17:19543614-19543615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533300054	chr17:19543648-19543649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558207072	chr17:19543712-19543713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200067672	chr17:19543722-19543723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191580879	chr17:19543773-19543774	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs377389507	chr17:19543785-19543786	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs535352563	chr17:19543805-19543806	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs183773764	chr17:19543816-19543817	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs188105727	chr17:19543867-19543868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144469971	chr17:19543943-19543944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549313564	chr17:19543980-19543981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73981572	chr17:19544009-19544010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538019713	chr17:19544032-19544033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112429231	chr17:19544040-19544041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571308586	chr17:19544075-19544076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193265706	chr17:19544104-19544105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9889632	chr17:19544138-19544139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs573311536	chr17:19544146-19544147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185388976	chr17:19544149-19544150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113143256	chr17:19544172-19544173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19534400-19545400	Weak transcription	A549	lung
2	chr17:19536000-19545600	Weak transcription	HepG2	liver
3	chr17:19538000-19549400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:19538800-19544400	Weak transcription	Liver	Liver
5	chr17:19544400-19544800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:19544400-19544800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr17:19544400-19545200	Enhancers	Liver	Liver
8	chr17:19544400-19546400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr17:19544400-19547000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr17:19544600-19545800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:19544600-19546000	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links