Variant report

Variant	nsv1048247
Chromosome Location	chr13:87041270-87073440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-13	chr13:87071264-87071414	NONHSAT034578
2	lnc-SLITRK6-13	chr13:87064440-87065323	l_895_chr13:87064439-87121529_brain
3	lnc-SLITRK6-13	chr13:87065395-87066011	l_895_chr13:87064439-87121529_brain
4	lnc-SLITRK6-13	chr13:87065819-87066011	NONHSAT034577
5	lnc-SLITRK6-13	chr13:87065819-87066011	NONHSAT034578

Extended variants
information (count: 358 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556669328	chr13:87049423-87049424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182320689	chr13:87049460-87049461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187737575	chr13:87049475-87049476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575327773	chr13:87049505-87049506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536327747	chr13:87049517-87049518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554710904	chr13:87049555-87049556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573436226	chr13:87049614-87049615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540463505	chr13:87049627-87049628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537313418	chr13:87049635-87049636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565519134	chr13:87049640-87049641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370623076	chr13:87049675-87049676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577444567	chr13:87049771-87049772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544921996	chr13:87049886-87049887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562505288	chr13:87049926-87049927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530058984	chr13:87049957-87049958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534236858	chr13:87050066-87050067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191075583	chr13:87050068-87050069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554414177	chr13:87050104-87050105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17612602	chr13:87050126-87050127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs17650224	chr13:87050127-87050128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546456958	chr13:87050172-87050173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571455670	chr13:87050307-87050308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536386419	chr13:87050324-87050325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12874621	chr13:87050385-87050386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550915428	chr13:87050392-87050393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572847250	chr13:87050401-87050402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9518034	chr13:87050402-87050403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577479031	chr13:87050403-87050404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183241734	chr13:87050418-87050419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551017899	chr13:87050436-87050437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554647616	chr13:87050522-87050523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572974310	chr13:87050533-87050534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188701235	chr13:87050536-87050537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558866816	chr13:87050537-87050538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577381089	chr13:87050595-87050596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544547623	chr13:87050626-87050627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536627223	chr13:87050689-87050690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371175107	chr13:87050736-87050737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574451595	chr13:87050838-87050839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541810425	chr13:87050888-87050889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560159959	chr13:87050910-87050911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74889127	chr13:87050989-87050990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546295616	chr13:87051099-87051100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79453265	chr13:87051164-87051165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145746246	chr13:87051189-87051190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550855974	chr13:87051198-87051199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78906424	chr13:87051210-87051211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138325502	chr13:87051239-87051240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113043555	chr13:87051273-87051274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192587550	chr13:87051302-87051303	Weak transcription	n/a	n/a	Overlapped CNVs	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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	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
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87049400-87050000	Enhancers	Fetal Brain Male	brain
2	chr13:87050000-87054600	Weak transcription	Fetal Brain Male	brain
3	chr13:87051400-87052200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:87054600-87055600	Enhancers	Fetal Brain Male	brain
5	chr13:87055800-87056400	Enhancers	Fetal Brain Female	brain
6	chr13:87062200-87062400	Flanking Active TSS	Gastric	stomach
7	chr13:87064200-87064400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr13:87064400-87068000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:87066000-87066800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:87066000-87067000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:87066000-87067000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:87066000-87067000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr13:87066200-87066400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr13:87066200-87066600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:87066200-87066800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr13:87066400-87066800	Enhancers	HUES6 Cell Line	embryonic stem cell

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