Variant report

Variant	esv3366115
Chromosome Location	chr13:87992451-87994449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-14	chr13:87992541-87992680	NONHSAT034585
2	lnc-SLITRK5-14	chr13:87992526-87992762	NONHSAT034584

Extended variants
information (count: 89 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146378067	chr13:87992494-87992495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530988789	chr13:87992510-87992511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560681629	chr13:87992551-87992552	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs549101778	chr13:87992571-87992572	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs117124881	chr13:87992596-87992597	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546327826	chr13:87992606-87992607	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs188775732	chr13:87992614-87992615	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs73563755	chr13:87992622-87992623	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73563757	chr13:87992720-87992721	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369404002	chr13:87992744-87992745	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs377525923	chr13:87992752-87992753	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs536875991	chr13:87992753-87992754	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs55920071	chr13:87992767-87992768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192700237	chr13:87992776-87992777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183428930	chr13:87992784-87992785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570526006	chr13:87992809-87992810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188028699	chr13:87992868-87992869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139737916	chr13:87992873-87992874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544995083	chr13:87992875-87992876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556864014	chr13:87992877-87992878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74329392	chr13:87992904-87992905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4771960	chr13:87992930-87992931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538905485	chr13:87992931-87992932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560648781	chr13:87993012-87993013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572609738	chr13:87993087-87993088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192539311	chr13:87993099-87993100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564743827	chr13:87993142-87993143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549768373	chr13:87993150-87993151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71128994	chr13:87993164-87993165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12862735	chr13:87993165-87993166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538242239	chr13:87993179-87993180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555045918	chr13:87993184-87993185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71128995	chr13:87993223-87993224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35196442	chr13:87993226-87993227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34689089	chr13:87993231-87993232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4771961	chr13:87993235-87993236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35089061	chr13:87993290-87993291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71128996	chr13:87993296-87993297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34036318	chr13:87993318-87993319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201655529	chr13:87993338-87993339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371522965	chr13:87993339-87993340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201819394	chr13:87993350-87993351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534064078	chr13:87993363-87993364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554253968	chr13:87993365-87993366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532813806	chr13:87993372-87993373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369040811	chr13:87993379-87993380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34602915	chr13:87993393-87993394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs201993559	chr13:87993399-87993400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536439701	chr13:87993463-87993464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71445375	chr13:87993490-87993491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87982200-87998600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:87993400-87993800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:87993800-88005800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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