Variant report

Variant	nsv900824
Chromosome Location	chr13:89429736-89552062
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	chr13:89446778..89447282-chr20:52691355..52691999,2	MCF-7	breast:
2	chr13:89528545..89531167-chr13:91999570..92001170,2	K562	blood:

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 861 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190905553	chr13:89433805-89433806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144972781	chr13:89433817-89433818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530126163	chr13:89433837-89433838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142159933	chr13:89433881-89433882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560848928	chr13:89433939-89433940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527832333	chr13:89433948-89433949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376996009	chr13:89433963-89433964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144362634	chr13:89433978-89433979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555779885	chr13:89434003-89434004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570746643	chr13:89434017-89434018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531285969	chr13:89434025-89434026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147830061	chr13:89434057-89434058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115400711	chr13:89434149-89434150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535444668	chr13:89434198-89434199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374683803	chr13:89440650-89440651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560283592	chr13:89440655-89440656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111327559	chr13:89440668-89440669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551814850	chr13:89440690-89440691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190181807	chr13:89440699-89440700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182623251	chr13:89440710-89440711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370824967	chr13:89440775-89440776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552658086	chr13:89440874-89440875	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569263054	chr13:89440903-89440904	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571133419	chr13:89440989-89440990	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs1415172	chr13:89441013-89441014	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138922672	chr13:89441068-89441069	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs118003113	chr13:89441109-89441110	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565842459	chr13:89441117-89441118	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539649823	chr13:89441174-89441175	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548518931	chr13:89441189-89441190	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs186938711	chr13:89441225-89441226	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371952870	chr13:89441227-89441228	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189874098	chr13:89441246-89441247	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111810012	chr13:89441247-89441248	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs570911751	chr13:89441251-89441252	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537987295	chr13:89441350-89441351	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs182836138	chr13:89441385-89441386	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs147131244	chr13:89441419-89441420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78651932	chr13:89441501-89441502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534202580	chr13:89441588-89441589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572257839	chr13:89441604-89441605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546369417	chr13:89441623-89441624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564560808	chr13:89441642-89441643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188782800	chr13:89441670-89441671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535572144	chr13:89441707-89441708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201485212	chr13:89441708-89441709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561634631	chr13:89441712-89441713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193211903	chr13:89441758-89441759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547671161	chr13:89441769-89441770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565973825	chr13:89441793-89441794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89433800-89434200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr13:89440600-89440800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:89440800-89441400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:89441400-89442400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:89442400-89442800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:89455000-89455600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:89469800-89470200	Enhancers	Dnd41	blood
8	chr13:89502600-89503400	Enhancers	Fetal Heart	heart
9	chr13:89513800-89514800	Enhancers	Fetal Brain Male	brain
10	chr13:89514000-89514600	Enhancers	Fetal Brain Female	brain
11	chr13:89514600-89515600	Weak transcription	Fetal Brain Female	brain
12	chr13:89514800-89516200	Weak transcription	Fetal Brain Male	brain
13	chr13:89515600-89515800	Enhancers	Fetal Brain Female	brain
14	chr13:89516200-89516400	Enhancers	Fetal Brain Male	brain
15	chr13:89519000-89519400	Enhancers	Dnd41	blood
16	chr13:89519400-89519800	Weak transcription	Dnd41	blood
17	chr13:89519800-89521800	Enhancers	Dnd41	blood
18	chr13:89526000-89527000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:89538000-89538200	Enhancers	Fetal Lung	lung
20	chr13:89538000-89538800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:89539200-89539800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:89539400-89539600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:89539400-89539800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:89539600-89539800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:89539600-89539800	Enhancers	HepG2	liver
26	chr13:89539800-89547600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:89539800-89547600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr13:89539800-89548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:89547600-89548000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:89547600-89549000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:89547800-89548400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr13:89548800-89549000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:89548800-89549000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:89549000-89549200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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