Variant report

Variant	nsv523536
Chromosome Location	chr13:79820126-79824974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:78711468..78712020-chr13:79820783..79821405,2	MCF-7	breast:
2	chr13:79552590..79553146-chr13:79820455..79821175,2	MCF-7	breast:
3	chr13:79822200..79824938-chr13:79835145..79837970,2	K562	blood:
4	chr13:79822200..79826014-chr13:79835066..79837970,3	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7339418	chr13:79820126-79820127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186039274	chr13:79820154-79820155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569616616	chr13:79820166-79820167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141138120	chr13:79820194-79820195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531612353	chr13:79820231-79820232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575195859	chr13:79820258-79820259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558023609	chr13:79820281-79820282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74404890	chr13:79820348-79820349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189709404	chr13:79820403-79820404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7316975	chr13:79820428-79820429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559434557	chr13:79820439-79820440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368104033	chr13:79820489-79820490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572819014	chr13:79820519-79820520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143234846	chr13:79820568-79820569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183397313	chr13:79820577-79820578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541182736	chr13:79820597-79820598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11353378	chr13:79820599-79820600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187689070	chr13:79820636-79820637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550933748	chr13:79820668-79820669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7321701	chr13:79820675-79820676	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192329154	chr13:79820705-79820706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546460753	chr13:79820711-79820712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112235189	chr13:79820712-79820713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188388696	chr13:79820757-79820758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147497115	chr13:79820759-79820760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528762982	chr13:79820760-79820761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140200228	chr13:79820778-79820779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548977023	chr13:79820800-79820801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370619331	chr13:79820850-79820851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528017740	chr13:79820853-79820854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568953575	chr13:79820863-79820864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563807931	chr13:79820870-79820871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192645302	chr13:79820885-79820886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558058409	chr13:79820922-79820923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12428306	chr13:79820927-79820928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534421585	chr13:79820932-79820933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200144350	chr13:79820978-79820979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554046085	chr13:79820998-79820999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184791035	chr13:79821024-79821025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145705999	chr13:79821025-79821026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368375782	chr13:79821026-79821027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555492179	chr13:79821100-79821101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575355160	chr13:79821136-79821137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117406725	chr13:79821149-79821150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532615340	chr13:79821174-79821175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188224360	chr13:79821248-79821249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533042407	chr13:79821250-79821251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540427754	chr13:79821272-79821273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560051390	chr13:79821280-79821281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77257836	chr13:79821301-79821302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Breast cancer	21858162	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
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	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
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79817600-79820200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:79817600-79824400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:79819800-79820600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:79819800-79821000	Enhancers	GM12878-XiMat	blood
5	chr13:79820000-79821000	Enhancers	Primary B cells from peripheral blood	blood
6	chr13:79820200-79820600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:79820200-79820800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:79820200-79820800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:79820400-79820800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr13:79820800-79821000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:79820800-79824600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:79824400-79824800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr13:79824400-79825000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:79824600-79825000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:79824600-79825000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr13:79824600-79825000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr13:79824600-79825200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:79824600-79825200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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