Variant report

Variant	nsv1043512
Chromosome Location	chr13:87099840-87134263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:86748899..86749431-chr13:87116065..87116706,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-13	chr13:87121092-87121362	NONHSAT034578
2	lnc-SLITRK6-13	chr13:87121092-87121219	NONHSAT034575
3	lnc-SLITRK6-13	chr13:87121092-87121515	NONHSAT034577
4	lnc-SLITRK6-13	chr13:87121092-87121529	l_895_chr13:87064439-87121529_brain

Extended variants
information (count: 247 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9519627	chr13:87099840-87099841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138264890	chr13:87099858-87099859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567388482	chr13:87099875-87099876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534780634	chr13:87099881-87099882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115970288	chr13:87099901-87099902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9586768	chr13:87099904-87099905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565863455	chr13:87099939-87099940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556619402	chr13:87099972-87099973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576416987	chr13:87099986-87099987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557328269	chr13:87099995-87099996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539295458	chr13:87099996-87099997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183814937	chr13:87100024-87100025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576405249	chr13:87100049-87100050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141841356	chr13:87100056-87100057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150182302	chr13:87100123-87100124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35405990	chr13:87100130-87100131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34387157	chr13:87100154-87100155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79343811	chr13:87100176-87100177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373005700	chr13:87100449-87100450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377113420	chr13:87100451-87100452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201711619	chr13:87100455-87100456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145356666	chr13:87100457-87100458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58752368	chr13:87100482-87100483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199743389	chr13:87100483-87100484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377163389	chr13:87100491-87100492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149316903	chr13:87100500-87100501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76693252	chr13:87100534-87100535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533531837	chr13:87100570-87100571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545276107	chr13:87100612-87100613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557239874	chr13:87100638-87100639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144563856	chr13:87100688-87100689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369083015	chr13:87100701-87100702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187963046	chr13:87100730-87100731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549302012	chr13:87100745-87100746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191787544	chr13:87100749-87100750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372897956	chr13:87100783-87100784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139647504	chr13:87100795-87100796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547060458	chr13:87100846-87100847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17650379	chr13:87100849-87100850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539570475	chr13:87100887-87100888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551306547	chr13:87100916-87100917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368290715	chr13:87100917-87100918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9558531	chr13:87100950-87100951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540222415	chr13:87101043-87101044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537326106	chr13:87101091-87101092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182122889	chr13:87101122-87101123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12857561	chr13:87101127-87101128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114823404	chr13:87101182-87101183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573670679	chr13:87101201-87101202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370393012	chr13:87101212-87101213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87098000-87100000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr13:87098800-87102800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:87099800-87100000	Enhancers	Fetal Lung	lung
4	chr13:87105200-87105600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:87116400-87117200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:87116800-87117000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:87117200-87118200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:87117200-87118200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr13:87118200-87118600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:87118200-87118600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr13:87118200-87118800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:87118200-87118800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:87118400-87118600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr13:87129000-87129200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:87129000-87129200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:87134200-87134800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:87134200-87134800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:87134200-87135600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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