Variant report

Variant	nsv1114
Chromosome Location	chr13:89487577-89532804
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	chr13:89528545..89531167-chr13:91999570..92001170,2	K562	blood:

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 348 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563738383	chr13:89502611-89502612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187242617	chr13:89502642-89502643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368482980	chr13:89502721-89502722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541485346	chr13:89502770-89502771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543299292	chr13:89502773-89502774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3864987	chr13:89502819-89502820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191674006	chr13:89502831-89502832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540872290	chr13:89502865-89502866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554940094	chr13:89502879-89502880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77726900	chr13:89502917-89502918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527780541	chr13:89502943-89502944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552731951	chr13:89502954-89502955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570843023	chr13:89503035-89503036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184797348	chr13:89503065-89503066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9588517	chr13:89503076-89503077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572032414	chr13:89503083-89503084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369281633	chr13:89503148-89503149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550465902	chr13:89503169-89503170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2808807	chr13:89503188-89503189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187706656	chr13:89503240-89503241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563936719	chr13:89503247-89503248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558097831	chr13:89503260-89503261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192681612	chr13:89503298-89503299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2808808	chr13:89503307-89503308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539140623	chr13:89503319-89503320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557467529	chr13:89503336-89503337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7139923	chr13:89503353-89503354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140130695	chr13:89503368-89503369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74580150	chr13:89503399-89503400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201435886	chr13:89513839-89513840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548076034	chr13:89513876-89513877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117527582	chr13:89513929-89513930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2807222	chr13:89513962-89513963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546702850	chr13:89513974-89513975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147457719	chr13:89514011-89514012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538658953	chr13:89514028-89514029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536662698	chr13:89514054-89514055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557591062	chr13:89514106-89514107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575838514	chr13:89514134-89514135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139945575	chr13:89514146-89514147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555181334	chr13:89514171-89514172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143923370	chr13:89514172-89514173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367847835	chr13:89514186-89514187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550373547	chr13:89514222-89514223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370223487	chr13:89514224-89514225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548367773	chr13:89514238-89514239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576729708	chr13:89514241-89514242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80139679	chr13:89514250-89514251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543876649	chr13:89514305-89514306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192974314	chr13:89514309-89514310	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Osteosarcoma	21215367	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89502600-89503400	Enhancers	Fetal Heart	heart
2	chr13:89513800-89514800	Enhancers	Fetal Brain Male	brain
3	chr13:89514000-89514600	Enhancers	Fetal Brain Female	brain
4	chr13:89514600-89515600	Weak transcription	Fetal Brain Female	brain
5	chr13:89514800-89516200	Weak transcription	Fetal Brain Male	brain
6	chr13:89515600-89515800	Enhancers	Fetal Brain Female	brain
7	chr13:89516200-89516400	Enhancers	Fetal Brain Male	brain
8	chr13:89519000-89519400	Enhancers	Dnd41	blood
9	chr13:89519400-89519800	Weak transcription	Dnd41	blood
10	chr13:89519800-89521800	Enhancers	Dnd41	blood
11	chr13:89526000-89527000	Enhancers	HUES48 Cell Line	embryonic stem cell

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